• Title/Summary/Keyword: Motor symptoms

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Association between MIR149 SNPs and Intrafamilial Phenotypic Variations of Charcot-Marie-Tooth Disease Type 1A (샤르코-마리-투스병 1A형(CMT1A)의 가족내 표현형적 이질성과 MIR149 SNP에 대한 연관성 연구)

  • Choi, Yu Jin;Lee, Ah Jin;Nam, Soo Hyun;Choi, Byung-Ok;Chung, Ki Wha
    • Journal of Life Science
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    • v.29 no.7
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    • pp.800-808
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    • 2019
  • Charcot-Marie-Tooth disease (CMT) is a group of rare peripheral neuropathies characterized by progressive muscle weakness and atrophy and areflexia in the upper and lower extremities. The most common subtype of CMT is CMT1A, which is caused by a tandem duplication of the PMP22 gene in the 17p12 region. Patients with CMT1A show a loose genotype-phenotype correlation, which suggests the existence of secondary genetic or association factors. Recently, polymorphisms of rs71428439 (n.83A>G) and rs2292832 (n.86T>C) in the MIR149 have been reported to be associated with late onset and mild phenotypic CMT1A severity. The aim of this study was to examine the intrafamilial heterogeneities of clinical phenotypes according to the genotypes of these two SNPs in MIR149. For this study, we selected 6 large CMT1A families who showed a wide range of phenotypic variation. This study suggested that both SNPs were related to the onset age and severity in the dominant model. In particular, the AG+GG (n.83A>G) and TC+CC genotypes (n.86T>C) were associated to late onset and mild symptoms. Motor nerve conduction velocity (MNCV) was not related to the MIR149 genotypes. These results were consistent with the previous studies. Therefore, we suggest that the rs71428439 and rs2292832 variants in MIR149 may serve as genetic modifiers of CMT1A intrafamilial phenotypic heterogeneity, as they have a role in the unrelated patients. This is the first study to show an association using large families with variable clinical CMT1A phenotypes. The results will be helpful in the molecular diagnosis and treatment of patients with CMT1A.

Clinical Study of Tuberculous Meningitis in Children (소아 결핵성 뇌막염의 임상적 고찰)

  • Kim, Woo Sik;Kim, Jong Hyun;Kim, Dong Un;Lee, Won Bae;Kang, Jin Han
    • Pediatric Infection and Vaccine
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    • v.4 no.1
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    • pp.64-72
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    • 1997
  • Purpose : The incidence of tuberculous meningitis in Korean children has been markedly decreased after 1980s, but this disease has still occurred with low rate. Therefore, it may be suspected that delayed diagnosis and treatment will be happened because of lacking of clinical experiences and indistinguishable other meningitis, so it is important to make early diagnosis and treatment of tuberculous meningitis concerning with the prognosis. In this aspect, we conducted study to concern and investigate sustainly about the diagnostic criteria, clinical characteristics, radiological findings, complications, and prognosis of typical or atypical tuberculous meningitis in children. Methods : Forty four children who were hospitalized and treated due to tuberculous meningitis in pediatric wards of Our Lady of Mercy Hospital, St. Holy Hospital, St. Vincent Hospital and Uijungbu St. Mary Hospital from January 1985 to June 1996 were included in this study. We reviewed medical records of these patients retrospectively. Results : 1) The tuberculous meningitis has occured continuosly since mid-1980s. The highest 2) The diagnosis was made by contact history of active tuberculous patients, positive tuberculin test, responses of antituberculous antibiotics and discovery of Mycobacterium tuberculosis from CSF or other specimens. Among patients, 7 children(16%) were not vaccinated with BCG, and only 18 children(40%) were positive in tuberculin test. 3) The symptoms and signs of our patients on initial examinations were fever, vomiting, headache, lethargy, poor feeding, weight loss, neck stiffness, convulsion, abdominal pain and motor deficits. 4) The findings of initial CSF samples revealed leukocyte $239.5/mm^3$(mean) with lymphocyte predominant, elevated protein levels(mean;259.5mg%) and low sugar level(mean;40.7mg%). And the ratio of CSF/blood sugar was 0.407. But, atypical CSF findings were seen in 31.8% patients. 5) On brain imaging study, 34 out of 39 children had findings of hydrocephalus, basilar meningeal enhancement, infarction and subarachnoidal inflammations etc. On chest X-ray, the findings of miliary tuberculosis(34.1%), normal finding(29.5%), parenchymal infiltrations (11.4%) and calcifications(9.1%) were showed. 6) In neurological clinical stage, there were twenty-six children(59%) in stage 1, fourteen children(32%) in stage 2 and four children(9%) in stage 3. The late sequeles were encountered by 29.5% with mild and 4.6% with severe neurological injury. The most common neurological injury was quadriplegia and the mortality rate was 6.8%. 7) The SIADH was developed in 20 children(45.5%) after the 4th hospital day. Half of all SIADH patients were symptomatic. Conclusion : Tuberculosis meningitis is still an important extrapulmonary disease with high morbidity and mortality. Early diagnosis with clinical contact history of active tuberculosis and radiological imaging examinations and early treatments are essential in order to prevent and decrase the rate of late sequeles and death.

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