• Clinical and Experimental Pediatrics
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• v.62 no.6
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• pp.224-234
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• 2019

Purpose: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before and after enzyme replacement therapy (ERT), and long-term outcomes in patients with infantile-onset PD (IOPD) and late-onset PD (LOPD) at a tertiary medical center. Methods: The medical records of 5 Korean patients (2 male, 3 female patients) diagnosed with PD between 2002 and 2013 at Samsung Medical Center in Seoul, Republic of Korea were retrospectively reviewed for data, including clinical and genetic characteristics at diagnosis and clinical course after ERT. Results: Common initial symptoms included hypotonia, cyanosis, and tachycardia in patients with IOPD and limb girdle weakness in patients with LOPD. Electrocardiography at diagnosis revealed hypertrophic cardiomyopathy in all patients with IOPD who showed a stable disease course during a median follow-up period of 10 years. Patients with LOPD showed improved hepatomegaly and liver transaminase level after ERT. Conclusion: As ERT is effective for treatment of PD, early identification of this disease is very important. Thus, patients with IOPD should be considered candidates for clinical trials of new drugs in the future.

• Neonatal Medicine
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• v.25 no.4
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• pp.137-143
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• 2018

Purpose: This study was performed to determine the clinical features of full-term infants with hypoxemia detected by pulse oximetry and to establish the diagnosis of critical congenital heart disease (CCHD). Methods: We retrospectively reviewed the medical records of neonates who had been admitted to the neonatal intensive care unit within 2 weeks of birth at Korea University Ansan Hospital between January 2013 and October 2017 (n=450). We classified these neonates based on the presence of hypoxemia at admission and investigated neonatal characteristics, initial symptoms, echocardiographic findings, and final diagnosis associated with hypoxemic diseases. Results: Of 450 term infants, 265 infants (58.9%) were identified hypoxemia by pulse oximetry at admission. The most common symptoms of them were cyanosis and tachypnea. Among them, 80.1% of infants (214/265) were diagnosed with respiratory tract disease and 8.3% of infants (22/265) had congenital heart disease. Thirteen infants (13/265, 4.9%) had CCHD and were treated with urgent surgery or transcatheter intervention within 28 days of birth. Majority of infants with respiratory tract disorder were transferred from hospital immediately after birth, but 46.1% of infants (6/13) with CCHD remained asymptomatic after birth and were admitted after 48 hours after birth. In addition, other hypoxemic illnesses were identified as neonatal infectious and neurological diseases. Conclusion: This study showed the importance of assessment in neonates with hypoxemia, including those diagnosed with CCHD. The possibility of CCHD should be considered in the differential diagnosis in neonates demonstrating hypoxemia after 48 hours of birth. A larger prospective study is needed to assess the effectiveness and outcomes of pulse oximetry for neonatal screening in Korea.

• Journal of the korean academy of Pediatric Dentistry
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• v.48 no.3
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• pp.359-366
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• 2021

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disorder and is the most common enzyme deficiency worldwide. Although this disease is rare in Korea, its prevalence may increase due to an increase of multicultural families. Patients with this deficiency are prone to hemolytic anemia provoked by specific drugs commonly used or prescribed in pediatric dentistry. It is necessary for pediatric dentists to have accurate knowledge of a patient's medical history and to consult with a pediatric hematologist to avoid oxidative stress that can lead to hemolysis. The most effective treatment is prevention of exposure to factors that may trigger anemia. Appropriate education regarding risk factors is essential for patients diagnosed with this disease. This case report aimed to discuss the drugs and dental management methods that should be cautious in children with G6PD deficiency.

• Journal of International Academy of Physical Therapy Research
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• v.10 no.2
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• pp.1803-1809
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• 2019

Background: Cervical mobilization has been applied mainly for the improvement of arm and neck movements and pain reduction, and little research has been done to improve the executive function. Since this kind of so-called mechanical neck pain is one of most common symptoms, there are controversial issues about this with spine alignment. Posteroanterior (PA) mobilization from the Maitland concept is a process of examination, assessment, and treatment of neuromusculoskeletal disorder by manipulative physical therapy. Objective: To examine the short-term benefits of mobilization for patients with non-specific neck pain. Design: Dual-group Pretest-Posttest Design from the Quasi-Experimental research Methods: Fourteen participants (male 8, female 6; 20's of their age) with non-specific neck pains which are distributed all the unilateral or bilateral body side were recruited. Participants were categorized to Neck Pain with Movement Coordination Impairments (NPMCI) and Neck Pain with Mobility Deficits (NPMD) groups according to the results of physical examination. Professional physical therapist who has over 15-years-of clinical experience applicated manipulative therapy for the neck pain, an occupational therapist only conducted evaluations; K-NDI (Korean version of the Neck Disability Index), VAS (Visual Analog Scale), BDS-K (Korean version of Behavioral Dyscontrol Scale) for decreasing possible adverse effects; there were no person who reported other symptoms followed 4 weeks from the trial. Results: In the NPMCI group, data analysis indicated statistical differences between the PA mobilization interventions in NDI and BDS-K; even though, pain was reduced in VAS, this is not a significantly differ. In the NPMD group, data analysis represented statistical differences between the PA mobilization interventions in NDI, VAS and BDS-K; the scores were represented to be increased or the pain got relief. Conclusions: PA mobilization techniques according to Maitland concept have beneficial effects in patients with neck pain and other clinical positive effects which included neck disability, pain itself and motor function of upper extremity.

• Journal of Physiology & Pathology in Korean Medicine
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• v.34 no.6
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• pp.309-318
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• 2020

Besides respiratory infection, COVID-19 has many neurological symptoms not only loss of smell and taste but also fatigue and brain fog. But it is a challenge to treat the neurological symptoms especially of anosmia and ageusia. In order to search for the therapeutic methods, the geographical diversity and pathological mechanisms of the COVID-19 and two symptoms were investigated from the latest clinical studies. Because the environmental conditions of the monsoon climate zone of East Asia and the Mediterranean and Oceanic climate zone of Italy, Britain, United States and tropical Brazil are different, each of diverse etiology and internal milieu should be considered differently in the treatment. SARS-CoV-2 exhibits the dampness-like characteristics and the olfactory and gustatory disorders are particularly more common than other flu or cold. and it tends to show features of damaging the lung qi of olfaction and heart-spleen qi of gustation. The mechanisms of olfactory and gustatory loss are various according to precursory, inflammatory, non-inflammatory and sequelar forms, so the therapeutic method should be designed for each period and pathology. If the process of inflammation arises from nasal and respiratory, olfactory epithelium to the central nervous structure by way of blood brain barrier, the treatment should be corresponded with the stage and depth of pathogen place. And if the olfactory loss is asymptomatic or in the initial stage, it can be applied intranasal topical scent therapy to relieve temporary locking of qi movement, but maybe also used in parallel together with herbs of relieving dampness toxin latent in the lung parenchyma.

• Korean Journal of Clinical Pharmacy
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• v.31 no.1
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• pp.35-43
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• 2021

Background: Migraine is a common neurological disorder that affects the quality of life and causes several health problems. Preventive migraine treatment can reduce migraine frequency, headache severity, and health care costs. This study aimed to estimate the utilization of migraine preventive therapy and associated factors in eligible patients. Methods: We studied 534 patients with migraine who were eligible for migraine preventive therapy using 2017 National Patient Sample (NPS) data from the Health Insurance Review and Assessment Service (HIRA). We estimated the migraine days by calculating the monthly average number of defined daily dose (DDD) of migraine-specific acute drug. Patients with a monthly average number of DDD of 4 or more were considered as subjects for preventive treatment. Chi-square test and multiple logistic regression analysis were used to determine the association between the preventive therapy and the influencing variables. Results: Less than half of the eligible patients for prophylaxis (n=234, 43.8%) were prescribed preventive therapy. Multiple logistic regression results show that migraine preventive therapy was influenced by age, the type of migraine, and some comorbidities. Patients over the age of 50 tend to receive less prophylactic treatment than under the age of 40. On the other hand, migraine patients with epilepsy or depression were more likely to receive preventive therapy. Sumatriptan was the most preferred medication for acute treatment, and propranolol was the most commonly prescribed drug for prevention. Conclusions: More than half of the patients who were candidates for migraine prophylaxis were not receiving suitable preventive treatment. Positive factors affecting the use of migraine prevention were the presence of comorbidities such as epilepsy and depression.

• Korean Journal of Clinical Pharmacy
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• v.31 no.4
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• pp.311-323
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• 2021

Objective: The disabled are in a blind spot for obtaining information on drugs, and the pharmacies' counseling on drug use is centered on non-disabled people. Few studies have investigated the current statuses of drug use by type of disability. The purpose of this study is to understand the drug use by type of disability and by life cycle of visually impaired and hearing impaired in Korea. Methods: The study participants consisted of 16 people with visually impairments, 12 people with hearing impairments. One in-depth interview was conducted per participant, and each interview was recorded and documented. Results: Common barriers against safe medication and medical service uses across disability types are 'lack of consideration and service for the disabled, limited access to medical facilities due to disability, limited access to information regarding medication use, psychological anxiety about drug use and side effects, and inconvenience regarding COVID-19 epidemic. The specific factors were 'difficulties in identifying proper medicines and following prescribed dosages' in the case of visually impaired, and 'problems with sign language interpretation system' for the hearing impaired. Conclusion: Disabled people are hindered from using medicines properly due to various factors. Based on the content derived from this study, it is necessary to eliminate the inhibition factors and devise specific measures for the safety of each type of disorder such as developing a method for medication counseling considering disabilities and establishing communication support systems.

• Journal of Practical Agriculture & Fisheries Research
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• v.22 no.1
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• pp.79-85
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• 2020

The current study is the first paper on FPT(failure of passive transfer) of horse population in Korea. The object of this study was to comparison of immune status normal and patient horses. Failure of passive transfer is the most common immunodeficiency disorder of horses. Twenty-two foals and 18 horses from Jeju of the equine hospital were diagnosed with the SNAP Foal IgG Test Kit. All adult horses had normal immune functions (≥800 mg/dl). Thirteen of the 22 newborn babies (59%; ∠800 mg/dl) had a weak immune function but recovered and survived after treatment. Nine of these 22 are horses with strong immunity (≥800 mg/dl), indicating that high IgG concentrations in the blood can cause infectious diseases. There were a total of six dead, four of which were infectious diseases. In addition, early identification of infectious diseases in newborn foals is expected to help prepare systematic health management measures for the development of the disease.

• Genomics & Informatics
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• v.19 no.4
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• pp.44.1-44.9
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• 2021

Autism is a complex neurodevelopmental disorder, the prevalence of which has increased drastically in India in recent years. Neuroligin is a type I transmembrane protein that plays a crucial role in synaptogenesis. Alterations in synaptic genes are most commonly implicated in autism and other cognitive disorders. The present study investigated the neuroligin 3 gene in the Indian autistic population by sequencing and in silico pathogenicity prediction of molecular changes. In total, 108 clinically described individuals with autism were included from the North Karnataka region of India, along with 150 age-, sex-, and ethnicity-matched healthy controls. Genomic DNA was extracted from peripheral blood, and exonic regions were sequenced. The functional and structural effects of variants of the neuroligin 3 protein were predicted. One coding sequence variant (a missense variant) and four non-coding variants (two 5'-untranslated region [UTR] variants and two 3'-UTR variants) were recorded. The novel missense variant was found in 25% of the autistic population. The C/C genotype of c.551T>C was significantly more common in autistic children than in controls (p = 0.001), and a significantly increased risk of autism (24.7-fold) was associated with this genotype (p = 0.001). The missense variant showed pathogenic effects and high evolutionary conservation over the functions of the neuroligin 3 protein. In the present study, we reported a novel missense variant, V184A, which causes abnormal neuroligin 3 and was found with high frequency in the Indian autistic population. Therefore, neuroligin is a candidate gene for future molecular investigations and functional analysis in the Indian autistic population.

• Journal of Dental Anesthesia and Pain Medicine
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• v.22 no.1
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• pp.19-27
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• 2022

Background: Myofascial pain dysfunction syndrome (MPDS) is the most common type of temporomandibular disorder. This study compared the efficacies of low-level diode laser therapy (LLLT) and laser acupuncture therapy (LAT) in the treatment of MPDS. Methods: This double-blind randomized controlled clinical trial included 24 patients with MPDS who were randomly divided into two equally sized groups. Patients in the LLLT group received 12 sessions of low-level diode laser irradiation applied to the trigger points of the masticatory muscles during 1 month. The same protocol was also used in the LAT group according to the specific trigger points. We measured pain intensity and maximum mouth opening in both groups at baseline, during treatment, and 2 months after treatment completion. Results: The pain intensities decreased from 6.58±1.31 to 0.33±0.65 and from 7.08 ± 1.37 to 0 in the LLLT and LAT groups, respectively. The maximum mouth openings increased from 32.25 ± 8.78 mm to 42.58 ± 4.75 mm and from 33 ± 6.57 mm to 45.67 ± 3.86 mm in the LLLT and LAT groups, respectively. Pain intensity (P = 0.839) and level of maximum mouth opening (P = 0.790) did not differ significantly between the groups. Conclusion: Our results showed similar efficacy between LLLT and LAT in the treatment of MPDS signs and symptoms.