• Childhood Kidney Diseases
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• v.23 no.2
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• pp.111-115
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• 2019

Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1. Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological features of rickets. We aimed to present the VDDR1A case with a genetic study of CYP27B1. The 14-month-old boy was admitted to the hospital due to a seizure. Serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone (PTH), 25(OH) vitamin D, and 1,25(OH)2 vitamin D values were 5.1 mg/dL, 3.7 mg/dL, 705 IU/L, 429 pg/mL, 24.9 ng/mL, and 8.8 pg/mL, respectively. Radiological study showed cupping and fraying of the distal ulna and radius. The molecular genetic study revealed that the patient had a compound heterozygous mutation, $Phe443Profs^*24$ and c.589+1G>A, in CYP27B1. Genetic analysis of the family members presented that the mother was heterozygous for the mutation c.589+1G>A, and that the father was heterozygous for $Phe443Profs^*24$. The patient was treated with calcium lactate and calcitriol. Until now, six Korean patients with VDDR1A have been studied. Including this case, Korean patients with VDDR1A were found to have only three different mutations in 14 alleles, indicating that the mutation in the CYP27B1 gene is homogeneous in the Korean population.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.95-98
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• 2018

A striking feature of mitochondrial disorders is the vast heterogeneity in their clinical symptoms that ranges from a single organ to severe multisystem involvement. Though a variety of ocular symptoms such as ptosis, pigmentary retinal degeneration, external ophthalmoplegia, and optic nerve atrophy can occur in association with mitochondrial cytopathies, progressive bilateral cataracts are rare among their ocular findings. A 5-year-old girl with no previous medical history came to our hospital presenting symptoms of seizure. She started showing progressive developmental regression, increased seizure frequency, hypotonia, general weakness, dysphagia and decreased vision. Lactic acidosis was noted in metabolic screening test and we confirmed mitochondrial respiratory chain complex I defect in spectrophotometric enzyme assay using the muscle tissue. Progressive bilateral cataracts then developed and were fully evident at the age of 7. She underwent cataract extraction with posterior chamber lens implantation. We are reporting a case of mitochondrial respiratory chain defect with multiorgan involvements including bilateral progressive cataract, an uncommon ocular manifestation. Ophthalmologic evaluation is highly recommended not to overlook the possible ocular manifestations in mitochondrial disorders.

• PNF and Movement
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• v.16 no.3
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• pp.317-332
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• 2018

Purpose: Patients with tibial fractures can have functional problems with balance and gait, as well as lower extremity muscle weakness. This case report aimed to describe the effect of hip joint strengthening exercises using proprioceptive neuromuscular facilitation (PNF) on balance and gait and lower limb function in a patient with tibia fracture. Methods: One patient diagnosed with tibial fracture was treated for seven weeks with the basic procedure, pattern, and technique of PNF for a hip joint strengthening exercise. Results: The results of pre- and post-intervention treatment showed improvements in physical function and structure in the clinical tests, including the manual strength test; the modified Ashworth scale; sensory evaluation; balance, sit-to-stand, and gait performance; and evaluation of lower limb function. Conclusion: Based on the results of this study, it is suggested that the use of theory-based proprioceptive neuromuscular stimulation for hip joint strengthening exercises positively affects patients' functional improvement in tibial fracture patients, and this may be used as a therapeutic exercise method for those with orthopedic problems in the lower extremities. One limitation of this study was that it was performed on only one tibia fracture patient, which makes it difficult to extend the treatment effects to all patients with this condition.

• Clinics in Shoulder and Elbow
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• v.24 no.2
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• pp.88-92
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• 2021

Background: Patients who have rotator cuff arthropathy experience a limited range of motion (ROM) of the shoulder joint and experience problems in performing their daily activities; however, no evidence is available to suggest the exact ROM of the shoulder joint in this population. Therefore, this study sought to determine the degree of motion of the shoulder joint in three planes during different activities. Methods: Five subjects with rotator cuff injuries participated in this study. The motion of the shoulder joints on both the involved and normal sides was assessed by a motion analysis system while performing forward abduction (task 1), flexion (task 2), and forward flexion (task 3). The OpenSIM software program was used to determine the ROM of the shoulder joints on both sides. The difference between the ranges of motion was determined using a two-sample t-test. Results: The ROMs of the shoulder joint in task 1 were 93.5°±16.5°, 72.1°±2.6°, and 103.9°±25.7° for flexion, abduction, and rotation, respectively, on the normal side and 28°±19.8°, 31°±31.56°, and 48°±33.5° on the involved side (p<0.05). There was no significant difference between the flexion/extension and rotation movements of the shoulder joint when performing task 1. However, the difference between flexion and rotation movements of the shoulder joints for the second task was significant (p>0.05). Conclusions: Those with rotator cuff arthropathy have functional limitations due to muscle weakness and paralysis, especially during the vertical reaching task. However, although these individuals have decreased ROM for transverse reaching tasks, the reduction was not significant.

• Genomics & Informatics
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• v.20 no.3
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• pp.30.1-30.9
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• 2022

Hereditary spastic paraplegia is a not common inherited neurological disorder with heterogeneous clinical expressions. ALDH18A1 (located on 10q24.1) gene-related spastic paraplegias (SPG9A and SPG9B) are rare metabolic disorders caused by dominant and recessive mutations that have been found recently. Autosomal recessive hereditary spastic paraplegia is a common and clinical type of familial spastic paraplegia linked to the SPG11 locus (locates on 15q21.1). There are different symptoms of spastic paraplegia, such as muscle atrophy, moderate mental retardation, short stature, balance problem, and lower limb weakness. Our first proband involves a 45 years old man and our second proband involves a 20 years old woman both are affected by spastic paraplegia disease. Genomic DNA was extracted from the peripheral blood of the patients, their parents, and their siblings using a filter-based methodology and quantified and used for molecular analysis and sequencing. Sequencing libraries were generated using Agilent SureSelect Human All ExonV7 kit, and the qualified libraries are fed into NovaSeq 6000 Illumina sequencers. Sanger sequencing was performed by an ABI prism 3730 sequencer. Here, for the first time, we report two cases, the first one which contains likely pathogenic NM_002860: c.475C>T: p.R159X mutation of the ALDH18A1 and the second one has likely pathogenic NM_001160227.2: c.5454dupA: p.Glu1819Argfs Ter11 mutation of the SPG11 gene and also was identified by the whole-exome sequencing and confirmed by Sanger sequencing. Our aim with this study was to confirm that these two novel variants are direct causes of spastic paraplegia.

• The Journal of Internal Korean Medicine
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• v.42 no.2
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• pp.104-113
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• 2021

Introduction: The aim of this study is to report on the effectiveness of Korean medicine to improve symptoms of chemotherapy-induced peripheral neuropathy (CIPN). Some patients are treated with medication, but medications may have no effect in some patients. Korean medicine treatments have been used in such patients, but few reports exist. Case Presentation: A 58-year-old female patient with CIPN reported symptoms of bilateral limb pain and tingling sensations as well as cold sensations in bilateral lower legs and hands, fatigue, and bilateral limb weakness. To reduce the patient's symptoms, we provided Korean medical treatment, including herbal medicine (Uchashinki-hwan), acupuncture, and moxibation. To evaluate the results of this treatment, we used a numeric rating scale (NRS), the manual muscle test (MMT), the National Cancer Institute Common Toxicity Criteria for Adverse Events (CTCAE), and the European Organization for Research and Treatment of Cancer quality-of-life questionnaire about CIPN (EORTC-QLQ-CIPN20). After 49 days of treatment, the NRS scores decreased for bilateral limb pain and tingling, for bilateral lower leg and hand cold sensation, and for fatigue. The MMT results for the upper and lower extremities were improved. CTCAE Grade and EORTC QLQ-CIPN20 score were also decreased. Conclusion: According to these results, Korean medicine treatment may be considered an effective treatment for CIPN. Prospective studies are needed in the future to confirm and expand these findings.

• Clinical Pain
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• v.19 no.2
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• pp.116-119
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• 2020

Cervical transforaminal epidural steroid injection (TFESI) is commonly performed to provide relief of pain caused by radiculopathy. Intra-arterial injection of particulate steroid or direct needle injury can lead to spinal artery embolism or thrombosis. Also there is a possibility of vascular spasm. To our knowledge, this is the first reported case of spinal cord infarction that occurred after TFESI with non-particulate steroid in Korea. A 47-year-old female patient underwent C7 TFESI at local pain clinic. Injected materials were dexamethasone and mepivacaine. Right after the intervention, she felt muscle weakness and decreased sensation. On physical examination, she had decreased sensation from C4 to T2 dermatome in light touch and pin-prick test. Proprioception and vibration were intact. The motor grades of upper extremities were grade 1. Cervical and thoracic spine MRI was checked. Diffusion-weighted image and apparent diffusion coefficient image showed long extension of spinal cord infarction from C2 to T1 level.

• PNF and Movement
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• v.20 no.1
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• pp.9-17
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• 2022

Purpose: The purpose of this study was to investigate the effect of chest mobilization and stretching exercises on maximal inspiratory pressure and maximal expiratory pressure in healthy adults who use computers for extended periods of time each day due to coronavirus disease 2019. Methods: Twenty-five healthy adults in their 20s and without respiratory disease (15 female, 10 male) took part in this study. Two types of thoracic mobilizing exercises using a Theraband and three types of stretching exercises using a foam roller were performed. Maximum inspiratory pressure and maximum expiratory pressure were measured three times each before and after the interventions. In terms of statistical methods, the maximum inspiratory pressure due to chest mobility and stretching was compared with the maximum expiratory pressure using parametric paired t-test and non-parametric Wilcoxon signed-rank test. Results: Maximum inspiratory pressure (p = .012) and maximum expiratory pressure (p = .006) showed significant differences before and after chest mobilization exercise and stretching among the participants. Conclusion: The results of this study suggest that chest mobilization and stretching exercises are effective exercise methods for improving maximal inspiratory and expiratory pressure. They suggest that these exercises can prevent respiratory muscle weakness and improve aerobic fitness in healthy people as well as those in need of cardiorespiratory physiotherapy.

• Clinical Pain
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• v.18 no.1
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• pp.52-57
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• 2019

Spinal accessory neuropathy (SAN) is commonly caused by an iatrogenic procedure, and that caused by tumors is very rare. We present a case of a 49-year-old man suffering from weakness in the right trapezius and sternocleidomastoid muscle. An electrophysiology study confirmed proximal SAN. Fluorodeoxyglucose (FDG)-positron emission tomography (PET)/computed tomography (CT) revealed a diffuse large B-cell lymphoma compressing the right spinal accessory nerve. Ultrasonography showed definite atrophy on the trapezius and sternocleidomastoid muscles. In addition, post-chemotherapy FDG-PET/CT showed increased FDG uptake in the right upper trapezius, suggestive of denervation. This is the first report of SAN caused by direct compression by a diffuse large B-cell lymphoma, comprehensively assessed by an electrophysiology study, ultrasonography, and FDG-PET/CT.

• Hip & pelvis
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• v.35 no.2
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• pp.99-107
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• 2023

Purpose: Bipolar hemiarthroplasty has recently been acknowledged as an effective option for treatment of unstable intertrochanteric fracture. Trochanteric fragment nonunion can cause postoperative weakness of the abductor muscle and dislocation; therefore, reduction and fixation of the fragment is essential. The purpose of this study was to perform an evaluation and analysis of the outcomes of bipolar hemiarthroplasty using a useful wiring technique for management of unstable intertrochanteric fractures. Materials and Methods: A total of 217 patients who underwent bipolar hemiarthroplasty using a cementless stem and a wiring technique for management of unstable intertrochanteric femoral fractures (AO/OTA classification 31-A2) at our hospital from January 2017 to December 2020 were included in this study. Evaluation of clinical outcomes was performed using the Harris hip score (HHS) and the ambulatory capacity reported by patients was classified according to Koval stage at six months postoperatively. Evaluation of radiologic outcomes for subsidence, breakage of wiring, and loosening was also performed using plain radiographs at six months postoperatively. Results: Among 217 patients, five patients died during the follow-up period as a result of problems unrelated to the operation. The mean HHS was 75±12 and the mean Koval category before the injury was 2.5±1.8. A broken wire was detected around the greater trochanter and lesser trochanter in 25 patients (11.5%). The mean distance of stem subsidence was 2.2±1.7 mm. Conclusion: Our wiring fixation technique can be regarded as an effective additional surgical option for fixation of trochanteric fracture fragments during performance of bipolar hemiarthroplasty.