• Journal of Genetic Medicine
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• v.14 no.1
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• pp.23-26
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• 2017

Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.

• Korean Journal of Radiology
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• v.21 no.7
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• pp.919-924
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• 2020

Objective: The current study reported a case series to illustrate the early computed tomography (CT) findings of coronavirus disease 2019 (COVID-19) in pediatric patients. Materials and Methods: All pediatric patients who were diagnosed with COVID-19 and who underwent CT scan in Zhongnan Hospital of Wuhan University from January 20, 2020 to February 28, 2020 were included in the current study. Data on clinical and CT features were collected and analyzed. Results: Four children were included in the current study. All of them were asymptomatic throughout the disease course (ranging from 7 days to 15 days), and none of them showed abnormalities in blood cell counts. Familial cluster was the main transmission pattern. Thin-section CT revealed abnormalities in three patients, and one patient did not present with any abnormal CT findings. Unilateral lung involvement was observed in two patients, and one patient showed bilateral lung involvement. In total, five small lesions were identified, including ground-glass opacity (n = 4) and consolidation (n = 1). All lesions had ill-defined margins with peripheral distribution and predilection of lower lobe. Conclusion: Small patches of ground-glass opacity with subpleural distribution and unilateral lung involvement were common findings on CT scans of pediatric patients in the early stage of the disease.

• Journal of the Korean Society of Physical Medicine
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• v.4 no.1
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• pp.9-14
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• 2009

Purpose : The purpose of this study is change of lumbar multifidus muslce recorded simultaneously by ultrasound imaging during upper extremity functional movement in chronic low back pain patients. The subject were consisted of 10 women patients with chronic low back pain and healthy asymptomatic subject 10 women. Methods : 10 women patients with chronic low back pain and healthy asymptomatic subject 10 women is voluntary participated for the research. Subjects were positioned in standing. Multifidus size were measured from L4 vertebral segement. The ultrasound imaging apparatus(Sonoace 6000, Medison, Korea) was epuipped with a 5-MHz convex array transducer. The upper extremity lifting movement used to activate the multifidus was then measured. Results : Results of the analysis showed that at the L4 vertebral leves, healthy asymptomatic subjects had significantly larger multifidus muscle compared with chronic LBP subjects. Conclusion : This study will be used as treatment method of patient with chronic LBP. The multifidus muscle in chronic LBP patients clinical significance. Most of chronic LBP patients have multifidus contraction pattern. Especially multifidus contraction in L4 vertebral segement. So chronic LBP patients necessary multifidus muscle release treatment.

• Journal of Chest Surgery
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• v.20 no.1
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• pp.156-160
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• 1987

Eight surgically treated patients with leiomyoma of the esophagus are presented. The patients were 6 men and 2 women whose ages ranged from 20 to 50 years. One of them was asymptomatic, while the remaining seven had mainly dysphagia and weight loss. The preoperative diagnosis was made in 6 cases. One patient had coexisting esophageal carcinoma masking the presence of the leiomyoma and masking the lesion an incidental operative funding. The other which was asymptomatic was diagnosed as a mediastinal tumor preoperatively. Six patients were treated by thoracotomy and enucleation of the tumor. Two patients were treated as esophagectomy and esophagogastrostomy. There were no operative deaths, and the overall results were excellent.

• Journal of Chest Surgery
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• v.21 no.3
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• pp.535-540
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• 1988

Many mediastinal masses seen radiologically are clinically asymptomatic. Only 55 to 65 percent of such lesions are asymptomatic, and of these many have only nonspecific symptoms by rupture, infection and pressure of surrounding organs. This report presents one case of a mediastinal teratoma which complicated an empyema. The patient was 7-year-old female and chief complaints were fever, left chest pain and general ache. In her past history, lung decortication and drainage procedure under the diagnosis of an empyema were carried out, 5 years ago, but she had not been improved, And so, explothoracotomy was done. At the time of operation, a mass of adult fist size was placed in the left anterior mediastinum and covered with the mediastinal pleura. Extirpation of the tumor and decortication were carried out and the left lung was remained.

• Restorative Dentistry and Endodontics
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• v.42 no.1
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• pp.65-71
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• 2017

A revascularization procedure was shown to be the best alternative therapy for immature teeth with necrotic pulp and apical infection. A 12 year old female with a history of trauma to her upper central incisor and a sinus tract was referred for endodontic treatment. She was an active orthodontic patient and had undergone regenerative endodontic treatment for the past 2 years. Clinical examination revealed no response to sensibility, percussion, and palpation tests. The preoperative radiograph showed an open apex and apical rarefaction. The case was diagnosed as previously treated tooth with asymptomatic apical periodontitis. Regenerative endodontic retreatment was performed, and the case was followed for 3 years. Clinical, radiographic, and cone-beam computed tomography follow-up examination revealed an asymptomatic tooth, with evidence of periapical healing and root maturation.

• Journal of Korean Neurosurgical Society
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• v.45 no.3
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• pp.185-187
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• 2009

Although most of sacral perineural cysts are asymptomatic, some may produce symptoms. Specific radicular pain may be due to distortion, compression, or stretching of nerve root by a space occupying cyst. We report a rare case of S1 radiculopathy caused by sacral perineural cyst accompanying disc herniation. The patient underwent a microscopic discectomy at L5-S1 level. However, the patient's symptoms did not improved. The hypesthesia persisted, as did the right leg pain. Cyst-subarachnoid shunt was set to decompress nerve root and to equalize the cerebrospinal fluid pressure between the cephalad thecal sac and cyst. Immediately after surgery, the patient had no leg pain. After 6 months, the patient still remained free of leg pain.

• Parasites, Hosts and Diseases
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• v.53 no.6
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• pp.699-703
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• 2015

Cystic echinococcosis (CE) is one of the most widespread zoonotic helminthiases, which can last an asymptomatic infection for several years. The purpose of this study was to demonstrate serum antibody prevalence of CE among asymptomatic people in Uzbekistan using ELISA. A total of 2,547 serum samples were collected, 66 from confirmed CE patients and 2,481 of patients with other diseases than CE at a hospital in Tashkent, Uzbekistan. The serum samples were screened for CE specific IgG antibodies by ELISA using cystic fluid antigen obtained from sheep. The serum antibody positive rate was 89.4% (59/66) in CE and 3.6% (89/2,481) in other disease patients. The present ELISA recognized 89.4% sensitivity and 96.4% specificity. The ELISA absorbance of positive samples was distributed 0.271-0.971 for CE and 0.273-0.887 for other disease patients. The other disease patients with high absorbance over 0.3 were 50 (2.0%) who were presumed to be active CE patients. The patients in their 40s showed the highest positive rate of 5.2% (P=0.181), and women were 4.4% while men were 3.1% positive (P=0.136). The data confirmed that there are many asymptomatic patients of CE in Tashkent. It is indicated that CE is an endemic disease of public health importance in Uzbekistan.

• Parasites, Hosts and Diseases
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• v.48 no.1
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• pp.75-78
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• 2010

The present study investigated characteristics of 24 parasite infection cases detected during colonoscopy in a regional hospital from January 2001 to December 2008. Sixteen patients were confirmed with Trichuris trichiura infection, 6 patients were with Ascaris lumbricoides infection, 1 patient with Enterobius vermicularis infection, and 1 patient with Anisakis infection. Among them, 7 patients (43.8%) were asymptomatic. Colonoscopy findings were normal in 18 patients (75.0%). Among the patients with T. trichiura infection, colonoscopy showed several erosions in 2 patients (8.3%) and non-specific inflammation of the affected segment of the colon in 3 patients (12.5%). In 1 patient with anisakiasis, colonoscopy revealed a markedly swollen colonic wall. Stool examinations were performed before treatment in 7 patients (29.2%) and were all negative for parasite eggs or worms. These results suggest that colonoscopy is a useful diagnostic approach for parasitic infections even for asymptomatic patients and for patients with negative stool examinations.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.23 no.2
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• pp.146-153
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• 2020

Purpose: Alpha-1 antitrypsin deficiency (A1ATD) in one of the most common genetic causes of liver disease in children. We aimed to analyze the clinical characteristics and outcomes of patients with A1ATD. Methods: This study included patients with A1ATD from five pediatric hepatology units. Demographics, clinical findings, genetics, and outcome of the patients were recorded (n=25). Results: Eight patients (32.0%) had homozygous PiZZ genotype while 17 (68.0%) had heterozygous genotype. Patients with PiZZ genotype had lower alpha-1 antitrypsin levels than patients with PiMZ genotype (37.6±7.7 mg/dL vs. 66.5±22.7 mg/dL, p=0.0001). Patients with PiZZ genotype were diagnosed earlier than patients with PiMZ genotype, but this was not significant (13±6.8 months vs. 23.7±30.1 months, p=0.192). Follow-up revealed the death of one patient (12.5%) with a homozygous mutation, and revealed that one patient had child A cirrhosis, five patients (62.5%) had chronic hepatitis, and one patient (12.5%) was asymptomatic. Nine of the 17 patients with a heterozygous mutation had chronic hepatitis (52.9%), two (11.7%) had child A cirrhosis, and six (35.2%) were asymptomatic. Overall, 18 (72%) of the 25 children had liver pathology in the long-term. Conclusion: Although prevalence is rare, patients with liver disorders should be checked for alpha-1 antitrypsin levels. Moreover, long-term follow-up is essential because most patients have a liver pathology.