• Archives of Plastic Surgery
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• v.49 no.5
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• pp.633-641
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• 2022

Introduction In chronic facial palsy, synkinetic muscle overactivity and shortening causes muscle stiffness resulting in reduced movement and functional activity. This article studies the role of multimodal therapy in improving outcomes. Methods Seventy-five facial palsy patients completed facial rehabilitation before being successfully discharged by the facial therapy team. The cohort was divided into four subgroups depending on the time of initial attendance post-onset. The requirement for facial therapy, chemodenervation, or surgery was assessed with East Grinstead Grade of Stiffness (EGGS). Outcomes were measured using the Facial Grading Scale (FGS), Facial Disability Index, House-Brackmann scores, and the Facial Clinimetric Evaluation scale. Results FGS composite scores significantly improved posttherapy (mean-standard deviation, 60.13 ± 23.24 vs. 79.9 ± 13.01; confidence interval, -24.51 to -14.66, p < 0.0001). Analysis of FGS subsets showed that synkinesis also reduced significantly (p < 0.0001). Increasingly, late clinical presentations were associated with patients requiring longer durations of chemodenervation treatment (p < 0.01), more chemodenervation episodes (p < 0.01), increased doses of botulinum toxin (p < 0.001), and having higher EGGS score (p < 0.001). Conclusions This study shows that multimodal facial rehabilitation in the management of facial palsy is effective, even in patients with chronically neglected synkinesis. In terms of the latency periods between facial palsy onset and treatment initiation, patients presenting later than 2 years were still responsive to multimodal treatment albeit to a lesser extent, which we postulate is due to increasing muscle contracture within their facial muscles.

• Pediatric Infection and Vaccine
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• v.13 no.2
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• pp.124-129
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• 2006

Purpose : We investigated the causative organisms of bacterial meningitis by age distribution from 1996 to 2005. Methods : Retrospective data were obtained from the medical records with diagnosis of bacterial meningitis or neonatal meningitis from 1996 through 2005. A case was defined by isolation of organism or detection of its antigen by latex agglutination from cerebrospinal fluid. Results : A total of 46 cases(27 neonates and 19 children) were identified. 15 of 27 episodes(55.6%) of neonatal meningitis had a concomitant-positive blood culture. Group B streptococci were the most common bacterial causes of neonatal meningitis(44.4%). Nine of 12 episodes(75.0%) were late-onset infections in neonatal meningitis caused by group B streptococci. 16 of 19 children(84.2%) with bacterial meningitis beyond the neonatal period were younger than 5 years of age(median age, 23 months). Of 19 cases, 8 infections were with Streptococcus pneumoniae, 8 were with Haemophilus influenzae and 3 were with Neisseria meningitidis. Since 2001 there was no case of meningococcal meningitis in this study. Conclusion : In neonates group B streptococci are the most common causative organisms of bacterial meningitis, especially late-onset infections. In infants and young children, the predominant causes of bacterial meningitis are H. influenzae and S. pneumoniae; meningitis caused by the former are likely to decrease after the introduction of the conjugate vaccine for H. influenzae type b.

• Clinical and Experimental Pediatrics
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• v.56 no.6
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• pp.265-268
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• 2013

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs$^*21$) as a hemizygous form.

• Korean Journal of Clinical Laboratory Science
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• v.38 no.3
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• pp.179-183
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• 2006

Alzheimer's disease (AD) is characterised neuropathologically by the accumulation of neuritic plaques and neurofibrillary tangles as well as by cerebrovascular amyloid deposition and neuronal cell loss. Current advances have shown the apolipoproteinE-epsilon 4 (ApoE4) allele to be highly associated with late-onset familial and sporadic Alzheimer's disease (AD) in Western populations. The association of ApoE allele frequencies and dementia remains unknown in populations from many countries. We recently initiated a project to examine ApoE frequencies in non-demented healthy Koreans. Genomic DNA in hair root from a thousand persons was collected and ApoE gene type was investigated with the methods of polymerase chain reaction (PCR) and restriction fragment length polymorphism. A group of a thousand non-demented Koreans over the age of 40 years were found to be positive in 15.7% of the cases for ApoE4. AD and ApoE4 were closely related. ApoE epsilon 4 was a dangerous factor of AD and ApoE 4 allele made a contribution to the heterogenicity of AD.

• The Korean Journal of Legal Medicine
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• v.42 no.4
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• pp.159-163
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• 2018

Progressive muscular dystrophy (PMD) is a primary muscle disease characterized by progressive muscle weakness and wasting, which is inherited by an X-linked recessive pattern and occurs mainly in males. There are several types of muscular dystrophies classified according to the distribution of predominant muscle weakness including Duchenne and Becker, Emery-Dreifuss, facioscapulohumeral, oculopharyngeal, and limb-girdle type. Clinical manifestations of PMD are clumsy, unsteady gait, pneumonia, heart failure, pulmonary edema, hydropericardium, hydrothorax, aspiration, syncopal attacks, and sudden cardiac death. The deceased was a 34-year-old man, and the onset of the first clinical symptom, gait disturbance, was in his late teens. His elder brother had the same disease and experienced brain death after a head trauma and died after mechanical ventilation was discontinued. After an autopsy, we found contracture of the joints, pseudohypertrophy of the calf, wasting and fat replacement of the thigh muscle, pericardial effusion (80 mL), fibrosis and fat replacement of the cardiac ventricular wall, pulmonary edema, and froth in the bronchus. The cause of death was heart failure and dyspnea due to muscular dystrophy. There was no sign or suspicion of foul play in his death.

• 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 and Experimental Pediatrics
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• v.57 no.3
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• pp.149-152
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• 2014

Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin ${\alpha}2$ (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin ${\alpha}2$)-deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.1
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• pp.23-29
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• 2018

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonemia. CPS1D is caused by mutations in the CPS1 gene on chromosome 2q35. Based on the age of onset, there are two phenotypes: the neonatal type and the delayed-onset type. The severity of clinical manifestation depends on the degree of CPS1 residual enzymatic activity, and can result in hyperammonemia and neurological dysfunction. We report a case of CPS1D in a neonate who developed vomiting, decreased consciousness and hyperammonemia at 25th day after birth. She showed excellent response to treatment including hydration, ammonia-lowering drugs and a low-protein diet without hemodialysis. Her growth, development and neurological outcomes were fair at the last follow-up at 17 months of age.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.29-34
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• 2015

Citrullinemia type1 is an autosomal recessive disorder of the urea cycle characterized by neonatal or late onset of hyperammonemia caused by a deficiency of the enzyme argininosuccinate synthetase (ASS). An ASS1 deficiency demonstrates fatal clinical manifestations that are characterized by the neonatal metabolic coma and early death when untreated. It causes a broad spectrum of effects, ranging from a mild disorder to a severe mental retardation, epilepsy, neurologic deficits. An acute neonatal form is the most common. Infants are normal at birth followed by an acute illness characterized by vomiting, lethargy, seizures and coma. These medical problems are life-threatening in many cases. A later onset form is less frequent and may be milder than the neonatal form. This later-onset form is associated with severe headaches, visual dysfunction, motor dysfunction, and lack of energy. Citrullinemia type1 is caused by mutations in the ASS1 gene located on chromosome 9q34.1 that encodes argininosuccinate synthetase, the third enzyme of the urea cycle catalyzing the formation of argininosuccinic acid from citrulline and aspartic acid. The enzyme is distributed in tissues including liver and fibroblasts. This mutation leads to hyperammonemia, arginine deficiency and elevated citrulline level. In the urea cycle, argininosuccinate synthetase catalyses the conversion of citrulline and aspartate to argininosuccinate.. Here, we describe a female newborn patient with lethargy, rigidity and hyperammonemia who was diagnosed as citrullinemia type1 with a c.[421-2A>G], c.[1128-6_1188dup] mutation.

• Journal of Haehwa Medicine
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• v.5 no.2
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• pp.473-484
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• 1997

This study was performed to survey the specific information about the time of onset, frequency, duration, and severity of the side effect of radiation therapy following breast cancer surgery, and identify the difference of these data according to the type of breast cancer surgery : modified radical mastectomy(MRM) vs. breast consevative operation(BCO). 38 breast cancer patients were interviewed with side effect profile about radiation therapy. Interview was done weekley from the start of radiation therapy through 6 weeks and 3 month follow-up interview was done at 3 month after completion of the treatment. The results are as follow : 1. Total score of side effect experienced by the breast cancer patients was rapidly increased at 2-3 week after intiating treatement and continousely raised maintaing high score until completion of the treatement. Some problems like cough, dyspnea and pain were more experienced after treatment. 2. Patients with modified radical mastectomy showed more total score of side effects than patients with breast conservative operation. And both patients with MRM and BCO experienced similar pattern of side effect to radiation therapy. Through these data we concluded that side effect to radiation therapy was not ended at completion of treatement. Patents will continously experiend various problems and suffer from not only acute side effects like skin problem, sore throat and swollowing difficulty but also late effect of the radiation therapy. Clinically these data can be used for oncologic nurse to provide informational interventions to prepare breast cancer patients for the radiation therapy.