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1.
Journal of the Korean Neurological Association ; : 68-72, 2023.
Article in Korean | WPRIM | ID: wpr-967808

ABSTRACT

Methylene-tetrahydrofolate reductase (MTHFR) is a homocysteine metabolism-related enzyme and defects of MTHFR is a risk factor for hyperhomocysteinemia and related various neurological disease. Among them, 665C>T polymorphism is the most common form. We report a 48 years old man presenting with progressive psychiatric problems along with severe demyelinating polyneuropathy due to homozygous c.665C>T homozygote polymorphism superimposed by compound heterozygous mutation (c.1417C>T, p.Arg473Trp) in the MTHFR gene, without thromboembolic changes.

2.
Clinics in Orthopedic Surgery ; : 101-108, 2023.
Article in English | WPRIM | ID: wpr-966731

ABSTRACT

Background@#Corrective osteotomy is an effective surgery for correcting posture in patients with ankylosing spondylitis (AS). Despite satisfactory correction, some patients experience re-stooping during follow-up. However, there have been no studies on restooping in AS. We aimed to analyze the factors that affect re-stooping. @*Methods@#Fifty patients (50 cases) who underwent thoracolumbar corrective osteotomy for AS from March 2006 to April 2018 were analyzed. We defined re-stooping as global kyphosis that recurs after corrective osteotomy. The patients were divided into two groups based on the ratio of correction loss: non-re-stooping group (N group) and re-stooping group (R group). We analyzed the demographic data and radiological parameters, such as modified Stoke Ankylosing Spondylitis Spine Score (mSASSS), sagittal vertical axis, and various angles. We also investigated the factors affecting re-stooping by analyzing the correlation between the ratio of correction loss and various factors. @*Results@#A significant difference was seen in the change in the mSASSS from before surgery to the last follow-up between the N group (2.87 ± 3.08) and the R group (9.20 ± 5.44). In multivariate analysis, only the change in the mSASSS from before surgery to the last follow-up was significantly correlated with the ratio of correction loss. @*Conclusions@#Thoracolumbar corrective osteotomy seems to provide high satisfaction among patients with AS but can lead to re-stooping during follow-up. The change in mSASSS was related with re-stooping in the current study. We recommend active rehabilitative exercises and appropriate medication depending on the patient’s condition, which may help delay the postoperative progression of AS.

3.
Clinics in Orthopedic Surgery ; : 109-117, 2023.
Article in English | WPRIM | ID: wpr-966730

ABSTRACT

Background@#This study aimed to examine trends in postoperative survival and surgical methods over a 25-year period in patients surgically treated for metastatic spinal tumors. @*Methods@#We performed a retrospective study of patients who underwent surgical treatment for metastatic spinal tumors between 1996 and 2020. For trend analysis, the study cohort was divided into three groups according to the year of surgery: 1996– 2004, 2005–2012, and 2013–2020. A Kaplan-Meier survival analysis was performed to examine survival, and the log-rank test was used to compare the survival of the top six common cancers among the periods. The surgical methods were grouped and examined as follows: fixation only, palliative decompression and fixation, gross total removal and fixation, and total en bloc spondylectomy. @*Results@#This study included a total of 608 patients. There were 78 patients in 1996–2004, 236 in 2005–2012, and 294 in 2013– 2020. Regarding the overall survival trend, the group 2013–2020 had a significantly improved survival as compared to the other two groups (p < 0.001). According to specific cancer sites, significant survival improvement was observed in patients with lung, kidney, and breast cancers (p < 0.001, p < 0.001, and p = 0.022, respectively). There were no significant changes in the primary sites of the liver, colorectum, or prostate. Regarding surgical methods, the proportion of gross total tumor removal declined, whereas the proportion of palliative decompression and fixation and fixation only procedures increased. @*Conclusions@#During the past 25 years, significant survival improvement was observed in patients with lung, kidney, and breast cancers. There was no improvement in survival in patients with liver, colorectal, and prostate cancers. In terms of surgical techniques, palliative decompression and fixation only procedures increased, while gross total tumor removal declined

4.
Clinics in Orthopedic Surgery ; : 734-739, 2023.
Article in English | WPRIM | ID: wpr-1000178

ABSTRACT

Background@#To report the long-term clinical and radiologic results of impaction bone grafting and standard cemented polished stem for femoral revision arthroplasty in patients with extensive bone deficiency. @*Methods@#We retrospectively reviewed 47 hips that underwent femoral revision hip arthroplasty using an impaction-morselized allograft with a standard cemented polished stem. The average age at the time of revision hip arthroplasty was 55 years (range, 39–75 years). The modified Harris hip score (HHS) was used for clinical evaluation. The radiologic evaluation focused on stem subsidence, stem position, progressive radiolucent lines, bone remodeling, and the incorporation of allografts. @*Results@#The modified HHS improved from an average of 55.04 (range, 25–79.5) preoperatively to 90.1 (range, 81–93.2) at the last follow-up. The mean follow-up duration was 13.5 years (10.9–17.8 years). The radiographic analysis revealed stable stems.Femoral stems showed an average subsidence of 3.2 mm (range, 2–8 mm) in the cement mantle. However, there was no mechanical failure or subsidence of the cement mantle in the femurs. The stem position was neutral or varus less than 5°. No progressive radiolucent line or osteolysis was observed. Evidence of cortical and trabecular remodeling was observed in all cases. There were four cases of intraoperative cracks and four cases of distal femur splitting. @*Conclusions@#Initial stem stability using impaction bone grafting and a standard cemented polished stem in femoral revision arthroplasty resulted in good outcome. Delicate impaction grafting techniques and intraoperative crack and splitting fixation are the points that need attention for successful long-term results.

5.
Clinics in Orthopedic Surgery ; : 975-982, 2023.
Article in English | WPRIM | ID: wpr-1000161

ABSTRACT

Background@#Previous reports with proximal junctional failure (PJF) included relatively young patients or deformity without sagittal imbalance. The present study focused on the two well-known risk factors for PJF, old age and severe sagittal imbalance. With these high-risk patients, the present study aimed to identify a strategy that could prevent PJF and to investigate whether the degree of correction would really affect the PJF occurrence. @*Methods@#Patients who were ≥ 60 years of age and underwent long fusion (≥ 4) to the sacrum for severe sagittal imbalance (defined as pelvic incidence minus lumbar lordosis [PI–LL] ≥ 30°) were included. PJF was defined as a vertebral fracture at the uppermost instrumented vertebra (UIV) or UIV+1, failure of UIV fixation, myelopathy, or any need for proximal extension of fusion. Presumed risk factors were compared between the patients with and without PJF. @*Results@#Total 146 patients (mean age, 68.4 years) with preoperative mean PI–LL of 46.8° were included. PJF developed in 39 patients (26.7%) at a mean of 18.1 months after surgery. Multivariate analysis showed that osteoporosis (odds ratio [OR], 2.812; p = 0.019) and UIV located below T10 (OR, 3.773; p = 0.010) were significant risk factors for developing PJF. However, the degree of correction did not affect PJF occurrence. @*Conclusions@#The present study indicates that osteoporosis should be well corrected preoperatively and extending the fusion above T10 should be considered for severe imbalance in old patients. However, the amount of correction was not associated with PJF development.

6.
Clinics in Orthopedic Surgery ; : 606-615, 2023.
Article in English | WPRIM | ID: wpr-1000136

ABSTRACT

Background@#Patient age has been associated with the development of proximal junctional failure (PJF). The characteristics of adult spinal deformity (ASD) are considered different between younger and older age groups. We hypothesized that the radiographic risk factors of PJF would be different according to age groups. This study aimed to evaluate different radiographic risk factors of PJF between two age groups undergoing thoracolumbar fusion for ASD. @*Methods@#ASD patients aged ≥ 60 years who underwent thoracolumbar fusion from the low thoracic level (T9–T12) to the sacrum were included. The minimum follow-up duration was 2 years. PJF was defined as proximal junctional angle (PJA) ≥ 20°, fixation failure, fracture, myelopathy, or necessity of revision surgery. Using various radiographic risk factors including age-adjusted ideal pelvic incidence (PI)-lumbar lordosis (LL), univariate and multivariate analyses were performed separately in two age groups: < 70 years and ≥ 70 years. @*Results@#A total of 186 patients (90.3% women) with a mean age of 69 years were enrolled. The mean follow-up duration was 67.4 months. PJF developed in 97 patients (52.2%). There were fractures in 53 patients, PJA ≥ 20° in 26, fixation failure in 12, and myelopathy in 6. PJF developed more frequently in patients 70 years or older than in those younger than 70 years. In patients aged less than 70 years, preoperative LL, PI-LL, and a change in LL were significant risk factors in univariate analysis. Multivariate analysis showed only a change in LL was significant for PJF development (odds ratio [OR], 1.025; p = 0.021). On the other hand, in patients 70 years or older, postoperative LL, postoperative PI-LL, and overcorrection relative to the conventional PI-LL target (within ± 10°) and age-adjusted ideal PI-LL target were significant risk factors. On multivariate analysis, only overcorrection of PI-LL relative to the age-adjusted ideal target was a single significant risk factor of PJF (OR, 5.250; p = 0.024). @*Conclusions@#In patients younger than 70 years, a greater change in LL was associated with PJF development regardless of PIrelated values. However, in older patients, overcorrection of PI-LL relative to the age-adjusted PI-LL target was a significant risk factor of PJF.

7.
Allergy, Asthma & Respiratory Disease ; : 206-210, 2023.
Article in English | WPRIM | ID: wpr-999251

ABSTRACT

The higher the use of nonsteroidal anti-inflammatory drugs (NSAIDs), the more reports of adverse drug reactions, especially in children than in adults. As patients with fever take several NSAIDs alternatively, suspected symptoms allergic to drugs with different chemical structures are also experienced in the clinical field. This is because it appears not only through immunological mechanisms but also through cross-intolerant reactions. Therefore, when hypersensitivity to one or more NSAIDs is present, it is important to distinguish between the 2 mechanisms for future treatment planning. Although it is difficult to distinguish between the 2 mechanisms by clinical history, drug provocation test with aspirin is helpful in diagnosis. A 4-year-old patient who had urticaria/angioedema and shortness of breath after taking ibuprofen and acetaminophen visited Kangwon National University Hospital for a treatment plan using antipyretics and/or analgegics forward. We propose a diagnosis and treatment protocol for such patients with a brief literature review.

8.
Clinics in Orthopedic Surgery ; : 477-487, 2023.
Article in English | WPRIM | ID: wpr-976753

ABSTRACT

Background@#The aim of this study was to investigate the clinical characteristics of nontuberculous mycobacterial tenosynovitis and to report the process of diagnosis and the outcomes of surgical debridement and drug administration in South Korea. @*Methods@#Between 2010 and 2019, 23 patients (10 men and 13 women) with nontuberculous tenosynovitis of the hand were treated at two centers. Their average age was 64 years, and the average duration of symptoms was 8 months (range, 1–36 months).Eight patients had a history of trauma or surgery. The average number of corticosteroid injections before diagnosis was 2.6 for 7 patients. All 23 patients were treated with a combination of extensive tenosynovectomy and antibiotics. @*Results@#Of the 23 patients, 20 were available for the final follow-up (1, lost to follow-up; 1, transferred to another hospital; and 1, died from a comorbidity). The most common species was Mycobacterium intracellulare (70%), followed by Mycobacterium abscessus (10%). The frequency of involvement of the extensor/flexor tendon was similar to that of the wrist/finger. The mean number of surgical debridement operations was 2.2. The average duration of antibiotic administration was 9.8 months. At the last follow-up, 3 patients were symptom-free with full range of motion at the involved site, 1 patient complained of localized swelling or pain with full range of motion, 1 patient was found to have a recurrence of infection in a finger, and 15 complained of restricted joint motion. @*Conclusions@#The most common species noted in patients with nontuberculous mycobacterial tenosynovitis was M. intracellulare. Patients with only 1 finger involved showed good range of motion at the final follow-up. Most patients experienced delayed wound healing and adverse effects from drug therapy during treatment and limited joint motion at the final follow-up.

9.
Allergy, Asthma & Respiratory Disease ; : 15-21, 2022.
Article in English | WPRIM | ID: wpr-913339

ABSTRACT

Purpose@#Anaphylaxis may be life-threatening, and thus requires early recognition and a rapid response. We investigated current demands imposed by anaphylaxis and the responses of pediatric and youth educational institutions. We surveyed school nurses and childcare teachers in Gangwon-do Province, South Korea. @*Methods@#The online survey featured 2 questionnaires: one exploring demands imposed by anaphylaxis and the current response status and the other evaluating awareness of anaphylaxis among school nurses and childcare teachers. @*Results@#A total of 105 school nurses and 263 childcare teachers responded, of whom 16.2% and 1.9% reported that they had encountered anaphylaxis at work, and 6.7% and 11.0% had epinephrine auto-injectors (EAIs) available, respectively. Furthermore, 7.6% of school nurses and 3.0% of childcare teachers had been requested by parents to obtain institutional EAIs. Screening for anaphylaxis at the beginning of each school year was performed in 81.9% of schools and 41.1% of childcare institutions, and 55.2% of schools and 44.5% of childcare institutions had formulated action plans for anaphylaxis. Anaphylaxis education had been received by 72.4% of school nurses and 38.8% of childcare teachers. However, anaphylaxis awareness and coping skills seemed to be lacking in most participants. @*Conclusion@#Given the nontrivial numbers of pediatric patients with anaphylaxis and thus the demand for assistance, the lack of institutional prevention and management systems (screening, action plans, and coping skills) is of concern. In addition to increasing teacher awareness, institutional changes are required.

10.
Journal of the Korean Neurological Association ; : 75-81, 2021.
Article in Korean | WPRIM | ID: wpr-900935

ABSTRACT

Background@#Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy have remarkable effects on the prognosis of Pompe disease. We performed the expanded screening for late onset Pompe disease (LOPD) at eight centers in Korea. @*Methods@#From September 1, 2015, GAA activity were measured from both dried blood spot (DBS) and mixed leukocyte for 188 available patients. For 12 patients with low GAA activity, we performed Sanger sequencing of GAA gene. @*Results@#Among 188 patients, 115 were males. The mean of age of symptom onset and diagnosis were 34.3 years and 41.6 years. Among 12 patients with decreased GAA activity, two patients were confirmed to have LOPD with genetic test (c.1316T>A [p.M439K] + c.2015G>A [p.R672Q], c.1857C>G [p.S619R] + c.546G>C [leaky splicing]). Other two patients had homozygous G576S and E689K mutation, known as pseudodeficiency allele. @*Conclusions@#This study is expanded study of LOPD screening for targeted Korean population. We found two patients with LOPD, and the detection rate of LOPD is 1.06%. With application of modified GAA cutoff value (0.4), which was previously reported, there were no false positive results of GAA activity test using DBS. Therefore, it could be an appropriate screening test for LOPD in especially East-Asian population, in which pseudodeficiency allele is frequent.

11.
Journal of the Korean Neurological Association ; : 77-86, 2021.
Article in Korean | WPRIM | ID: wpr-900916

ABSTRACT

Motor neuron diseases (MND) are heterogeneous spectra of disorders that that primarily affect the motor neurons (MN) resulting in motor nerve and muscle degeneration. The pathophysiological mechanisms of MN cell death are known to be combined with disturbance of proteostasis, ribonucleostasis and exaggerated neuro-inflammation. Amyotrophic lateral sclerosis is the prototypic disease of MND followed by spinal and bulbar muscular atrophy, spinal muscular atrophy, benign focal amyotrophy and other various diseases. Although diverse spectra of these diseases share common symptoms, significant differences are known in their clinical manifestations and their clinical progression. With increasing number of new clinical trials, the importance of selecting appropriate clinical scales for the monitoring of clinical progression in different types of MNDs should be emphasized. The purpose of this review is to illustrate different types of clinical scales and demonstrate how to utilize these in the clinical research field with consensus. With these efforts, we hope to be ready to understand different kinds of clinical scales in MND in participating global standard clinical trials.

12.
Journal of the Korean Neurological Association ; : 219-221, 2021.
Article in Korean | WPRIM | ID: wpr-900895

ABSTRACT

Congenital myasthenic syndromes are a genetically and clinically heterogeneous group of neuromuscular disorders linked by abnormal signal transmission at the motor endplate caused by various genetic defects. Major clinical symptoms include weakness and fatigue during the first years of life but patients may also present with hypotonia, facial weakness, swallowing difficulties, respiratory dysfunction, ptosis and ophthalmoparesis. Here we report a 10-year-old boy who presented with mild developmental delay and bilateral ptosis caused by a frameshift mutation in the CHRNA1 gene that co-segregated within the family, and finally diagnosed as autosomal dominant congenital myasthenic syndrome.

13.
Journal of Bone Metabolism ; : 179-191, 2021.
Article in English | WPRIM | ID: wpr-898933

ABSTRACT

Sarcopenia leads to loss of skeletal muscle mass, quality, and strength due to aging; it was recently given a disease code (International Classification of Diseases, Tenth Revision, Clinical Modification, M62.84). As a result, in recent years, sarcopenia-related research has increased. In addition, various studies seeking to prevent and treat sarcopenia by identifying the various mechanisms related to the reduction of skeletal muscle properties have been conducted. Previous studies have identified muscle synthesis and breakdown; investigating them has generated evidence for preventing and treating sarcopenia. Mouse models are still the most useful ones for determining mechanisms underlying sarcopenia through correlations and interventions involving specific genes and their phenotypes. Mouse models used to study sarcopenia often induce muscle atrophy by hindlimb unloading, denervation, or immobilization. Though it is less frequently used, the senescence-accelerated mouse can also be useful for sarcopenia research. Herein, we discuss cases where senescence-accelerated and genetically engineered mouse models were used in sarcopenia research and different perspectives to use them.

14.
Journal of the Korean Neurological Association ; : 75-81, 2021.
Article in Korean | WPRIM | ID: wpr-893231

ABSTRACT

Background@#Pompe disease is a rare autosomal recessive disorder caused by the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Early diagnosis and initiation of treatment with enzyme replacement therapy have remarkable effects on the prognosis of Pompe disease. We performed the expanded screening for late onset Pompe disease (LOPD) at eight centers in Korea. @*Methods@#From September 1, 2015, GAA activity were measured from both dried blood spot (DBS) and mixed leukocyte for 188 available patients. For 12 patients with low GAA activity, we performed Sanger sequencing of GAA gene. @*Results@#Among 188 patients, 115 were males. The mean of age of symptom onset and diagnosis were 34.3 years and 41.6 years. Among 12 patients with decreased GAA activity, two patients were confirmed to have LOPD with genetic test (c.1316T>A [p.M439K] + c.2015G>A [p.R672Q], c.1857C>G [p.S619R] + c.546G>C [leaky splicing]). Other two patients had homozygous G576S and E689K mutation, known as pseudodeficiency allele. @*Conclusions@#This study is expanded study of LOPD screening for targeted Korean population. We found two patients with LOPD, and the detection rate of LOPD is 1.06%. With application of modified GAA cutoff value (0.4), which was previously reported, there were no false positive results of GAA activity test using DBS. Therefore, it could be an appropriate screening test for LOPD in especially East-Asian population, in which pseudodeficiency allele is frequent.

15.
Journal of the Korean Neurological Association ; : 77-86, 2021.
Article in Korean | WPRIM | ID: wpr-893212

ABSTRACT

Motor neuron diseases (MND) are heterogeneous spectra of disorders that that primarily affect the motor neurons (MN) resulting in motor nerve and muscle degeneration. The pathophysiological mechanisms of MN cell death are known to be combined with disturbance of proteostasis, ribonucleostasis and exaggerated neuro-inflammation. Amyotrophic lateral sclerosis is the prototypic disease of MND followed by spinal and bulbar muscular atrophy, spinal muscular atrophy, benign focal amyotrophy and other various diseases. Although diverse spectra of these diseases share common symptoms, significant differences are known in their clinical manifestations and their clinical progression. With increasing number of new clinical trials, the importance of selecting appropriate clinical scales for the monitoring of clinical progression in different types of MNDs should be emphasized. The purpose of this review is to illustrate different types of clinical scales and demonstrate how to utilize these in the clinical research field with consensus. With these efforts, we hope to be ready to understand different kinds of clinical scales in MND in participating global standard clinical trials.

16.
Journal of the Korean Neurological Association ; : 219-221, 2021.
Article in Korean | WPRIM | ID: wpr-893191

ABSTRACT

Congenital myasthenic syndromes are a genetically and clinically heterogeneous group of neuromuscular disorders linked by abnormal signal transmission at the motor endplate caused by various genetic defects. Major clinical symptoms include weakness and fatigue during the first years of life but patients may also present with hypotonia, facial weakness, swallowing difficulties, respiratory dysfunction, ptosis and ophthalmoparesis. Here we report a 10-year-old boy who presented with mild developmental delay and bilateral ptosis caused by a frameshift mutation in the CHRNA1 gene that co-segregated within the family, and finally diagnosed as autosomal dominant congenital myasthenic syndrome.

17.
Journal of Bone Metabolism ; : 179-191, 2021.
Article in English | WPRIM | ID: wpr-891229

ABSTRACT

Sarcopenia leads to loss of skeletal muscle mass, quality, and strength due to aging; it was recently given a disease code (International Classification of Diseases, Tenth Revision, Clinical Modification, M62.84). As a result, in recent years, sarcopenia-related research has increased. In addition, various studies seeking to prevent and treat sarcopenia by identifying the various mechanisms related to the reduction of skeletal muscle properties have been conducted. Previous studies have identified muscle synthesis and breakdown; investigating them has generated evidence for preventing and treating sarcopenia. Mouse models are still the most useful ones for determining mechanisms underlying sarcopenia through correlations and interventions involving specific genes and their phenotypes. Mouse models used to study sarcopenia often induce muscle atrophy by hindlimb unloading, denervation, or immobilization. Though it is less frequently used, the senescence-accelerated mouse can also be useful for sarcopenia research. Herein, we discuss cases where senescence-accelerated and genetically engineered mouse models were used in sarcopenia research and different perspectives to use them.

18.
Journal of Korean Society of Spine Surgery ; : 9-18, 2020.
Article | WPRIM | ID: wpr-836048

ABSTRACT

Objectives@#This study was conducted to demonstrate the reliability of mini-open anterior lumbar interbody fusion (ALIF) combined with lateral lumbar interbody fusion (LLIF) followed by 2-stage posterior fixation in patients with adult spinal deformity (ASD).Summary of Literature Review: Although the correction of ASD using LLIF has become more widespread, the amount of sagittal plane correction has been reported to be suboptimal.Materials and Method: Thirty ASD patients who underwent ALIF with LLIF followed by 2-stage posterior fixation (AP group) were compared to 60 patients who underwent posterior-only surgery (PO group) and were matched according to age, sex, diagnosis, fusion level, pelvic incidence, and follow-up duration. Spinopelvic parameters, hospitalization data, clinical outcomes, and complications were compared between the 2 groups. @*Results@#Postoperative lumbar lordosis was greater in the AP group than in the PO group (p<0.001). The reduction in the sagittal vertical axis was also greater in the AP group than in the PO group (p=0.005). Postoperatively, 90.0% of the AP group had a pelvic incidence– lumbar lordosis value within 9°, whereas only 50.0% of the PO group met that criterion (p<0.001). The operation time of the AP group was longer than that of the PO group, while estimated blood loss and red cell transfusion were lower in the AP group. Postoperative medical complications and delayed surgical complications developed more frequently in the PO group. @*Conclusions@#Mini-open ALIF with LLIF followed by 2-stage posterior fixation can restore sagittal balance more appropriately, with a lower rate of complications, than posterior-only surgery for the correction of ASD.

19.
Journal of Bone Metabolism ; : 97-110, 2020.
Article | WPRIM | ID: wpr-835594

ABSTRACT

The hallmark symptom of sarcopenia is the loss of muscle mass and strength without the loss of overall body weight. Sarcopenia patients are likely to have worse clinical outcomes and higher mortality than do healthy individuals. The sarcopenia population shows an annual increase of ~0.8% in the population after age 50, and the prevalence rate is rapidly increasing with the recent worldwide aging trend. Based on International Classification of Diseases, Tenth Revision, a global classification of disease published by the World Health Organization, issued the disease code (M62.84) given to sarcopenia in 2016. Therefore, it is expected that the study of sarcopenia will be further activated based on the classification of disease codes in the aging society. Several epidemiological studies and meta-analyses have looked at the correlation between the prevalence of sarcopenia and several environmental factors. In addition, studies using cell lines and rodents have been done to understand the biological mechanism of sarcopenia. Laboratory rodent models are widely applicable in sarcopenia studies because of the advantages of time savings, cost saving, and various analytical applications that could not be used for human subjects. The rodent models that can be applied to the sarcopenia research are diverse, but a simple and fast method that can cause atrophy or aging is preferred. Therefore, we will introduce various methods of inducing muscular atrophy in rodent models to be applied to the study of sarcopenia.

20.
Yeungnam University Journal of Medicine ; : 341-344, 2020.
Article | WPRIM | ID: wpr-835399

ABSTRACT

Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare neurological genetic disease caused by deletion of the peripheral myelin protein 22 gene and presents in childhood or young adulthood. We report four cases of HNPP with typical and rare presentations, reflecting the broad clinical spectrum of this disease. Two patients presented with mononeuropathies that are frequently observed in HNPP; the remaining two presented with bilateral neuropathy or mononeuropathy anatomically present in the deep layer. This reflects the broad clinical presentation of HNPP, and clinicians should differentiate these conditions in young patients with monoparesis or bilateral paresis. Although HNPP is currently untreatable, early diagnosis in the emergency department can lead to early detection, eventually resulting in less provocation and recurrence which may cause early motor nerve degeneration.

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