• Advances in pediatric surgery
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• v.8 no.1
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• pp.54-61
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• 2002

Hirschsprung's disease (HD) is usually diagnosed in the newborn period and early infancy. The common presentation of HD in newborns consists of a history of delayed passage of meconium within the first 48 hours of life. The differential diagnosis in newborns is one of the clinical challenges of this disorder. A number of medical conditions which cause functional obstruction of the intestines are easily excluded. Neonates with meconium ileus, meconium plug syndrome, distal ileal atresia and low imperforate anus often present in a manner similar to those with HD in the first few days of life. Abdominal radiographs may help to diagnose complete obstruction such as intestinal atresia. Microcolon on contrast enema can be shown in cases with total colonic aganglionosis, ileal atresia or meconium ileus. Suction rectal biopsy or frozen section biopsy at operation is essential for differential diagnosis in such cases. HD is also considered in any child who has a history of constipation regardless of age. Older children with functional constipation may have symptoms that resemble those of HD and contrast enema is usually diagnostic. However, children with other motility disorders generally referred to as chronic idiopathic intestinal pseudoobstruction present with very similar symptoms and radiographic findings. These disorders are classified according to their histologic characteristics.; visceral myopathy, visceral neuropathy, intestinal neuronal dysplasia (IND), hypoganglionosis, immature ganglia, internal sphincter achalasia. Therefore, the workup for motility disorders should include rectal biopsy not only to confirm the presence of ganglion cells but also evaluate the other pathologic conditions.

• Parasites, Hosts and Diseases
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• v.59 no.5
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• pp.497-499
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• 2021

Trichinellosis (trichinosis) is a parasitic infection caused by nematodes of the genus Trichinella. Pigs are the most common source of human infection. We describe a case of a 47-year-old woman presented with a wide range of intermittent symptoms including prolonged fever, dry cough, diarrhea, rash, myalgias and arthralgias. The patient was attended by physicians with various medical specialties such as dermatologists, rheumatologists and allergiologists, but they did not establish a certain diagnosis because of the gradual onset of symptoms, raising the suspicion of a systematic disease. After extensive work up, the diagnosis of trichinosis was established with femoral muscle biopsy compatible with inflammatory myopathy of parasitic etiology with trichinosis to be the predominant diagnosis. Despite the significant delay of diagnosis for almost three months, patient was treated successfully with no further complications. Trichinellosis is a food-borne treatable infection. Preventive measures include community education especially in zones where parasite prevalence is increased, improvement of farming and cooking techniques.

• Korean Journal of Clinical Pharmacy
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• v.29 no.2
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• pp.133-137
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• 2019

Atorvastatin is one of the most widely prescribed medications for dyslipidemia treatment. In Korea, post combined therapy with ezetimibe, a 73-year-old woman was reported by a community pharmacy to have experienced visual field defect, which recovered after drug discontinuation. She had never experienced this symptom before, and several studies have reported an association between use of statins and visual disorders such as blurred vision, diplopia, and cataract. Blockage of cholesterol accumulation, oxidative stress, or myopathy is expected to be a cause of this symptom. Naranjo scale, Korean causality assessment algorithm (Ver.2), and World Health Organization-Uppsala Monitoring Center (WHO-UMC) criteria were the three tools used to determine causality between the visual disorder and atorvastatin. The results represent 'probable', 'certain', and 'probable/likely' causality, respectively. Our results, in combination with a review of literature, indicate that ocular adverse effects are highly likely related to atorvastatin.

• Journal of Electrodiagnosis and Neuromuscular Diseases
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• v.20 no.2
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• pp.130-134
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• 2018

A 36-year-old male patient developed diffuse low back pain. His past medical history was unremarkable and had no family history of neuromuscular disease. He had no bladder and bowel problems. Creatine kinase was 172 U/L (normal < 170). Other fluid and blood chemistry tests were normal. Manual muscle test grades of extremities and sensory examination were normal. Muscle stretch reflexes were normal. Fasciculations and myotonia were not detected. Straight leg raising test was negative. There was no spinal root compression, spinal stenosis, or signal intensity change of spinal cord on magnetic resonance imaging (MRI). Fatty change and atrophy of the cervical, thoracic and lumbar paraspinal muscles were noted on MRI. Nerve conduction studies were normal. Electromyography showed 1+ positive sharp waves in the lumbar paraspinal muscles. Electromyography of upper and lower extremity muscles revealed no abnormal spontaneous activity. We report a rare case of severe paraspinal muscle atrophy with fatty degeneration in a Young Adult.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.25 no.4
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• pp.321-331
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• 2022

Purpose: This study aimed to assess the quality of life (QoL) of children with glycogen storage disease (GSD) and their parents and to determine the impact of myopathies. Methods: A prospective case-control study was conducted at the Cairo University Children's Hospital and National Liver Institute, Menoufia University. A promising new style of questionnaire called the Stark Quality of Life Questionnaire was used to assess the quality of life. Results: Fifty-two children diagnosed with GSD (cases) and 55 age- and sex-matched healthy children (controls) were included. A statistically significant difference was found between cases and controls regarding food intake; mental behavior parameters such as mood, energy, and social contact; and physical behavior parameters such as running and tying shoelaces. Children with myopathies had significantly lower QoL scores in most of the parameters. Conclusion: GSDs alter children and their parents' mental and physical abilities. Lower QoL scores were detected in children with both skeletal myopathy and cardiomyopathy, but the difference was not statistically significant when compared with the children without myopathies.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.22 no.1
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• pp.1-8
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• 2022

Long-chain fatty acid oxidation disorders (LC-FAOD) are an autosomal recessive inherited rare disease group that result in an acute metabolic crisis and chronic energy deficiency owing to the deficiency in an enzyme that converts long-chain fatty acids into energy. LC-FAOD includes carnitine palmitoyltransferase type 1 (CPT1), carnitine-acylcarnitine translocase (CACT), carnitine palmitoyltransferase type 2 (CPT2), very long-chain acyl-CoA dehydrogenase (VLCAD), long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), and trifunctional protein (TFP) deficiencies. Common symptoms of LC-FAOD are hypoketotic hypoglycemia, cardiomyopathy, and myopathy. Depending on symptom onset, the disease can be divided as neonatal period, late infancy and early childhood, adolescence, or adult onset, but symptoms can appear at any time. The neonatal screening test (NBS) can be used to identify the characteristic plasma acylcarnitine profiles for each disease and confirmed by deficient enzyme analysis or molecular testing. Before introduction of NBS, the mortality rate of LC-FAOD was very high. With NBS implementation as routine neonatal care, the mortality rate was dramatically decreased, but severe symptoms such as rhabdomyolysis recur frequently and affect the quality of life. Triheptanoin (Dojolvi^®), the first drug for pediatric and adult patients with molecularly confirmed LC-FAOD, has recently been approved by the US Food and Drug Administration in 2020. In this review, the diagnosis of LC-FAOD and treatment including triheptanoin are summarized.

• Annals of Clinical Neurophysiology
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• v.25 no.2
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• pp.106-109
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• 2023

Inclusion body myositis (IBM) is a late-onset myopathy that manifests as distinct muscle weakness in the quadriceps, finger flexors, and ankle dorsiflexors. T-cell large granular lymphocyte (T-LGL) leukemia is a late-onset clonal disorder of CD8+ cytotoxic T-cells that is often accompanied by autoimmune diseases. To date, the association between IBM and T-LGL leukemia has been infrequently reported. Here, we report a case of a patient with T-LGL leukemia who developed IBM, along with in-depth laboratory, electrophysiological, and pathologic findings.

• Culinary science and hospitality research
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• v.23 no.1
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• pp.66-78
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• 2017

"Sarcopenia", sarcopenia is an old age syndrome, and used to describe the reduction of skeletal muscle. Initially, it was thought that sarcopenia was only a senile disease characterized by degeneration of muscle tissue. However, its cause is widely regarded as multifactorial, with neurological decline, hormonal changes, inflammatory pathway activation, declines in activity, chronic illness, fatty infiltration, and poor nutrition, all shown to be contributing factors. Skeletal muscle mass can be measured by a variety of methods, currently, the commonly used methods are dual-energy X-ray scanning (DXA), computer tomography (CT), magnetic resonance imaging (MRI), etc. Muscular skeletal disorders can also be assessed by measuring appendicular skeletal muscle (ASM), particularly muscle tissue content. At the same time, sarcopenia refers to skeletal muscle cell denervation, mitochondrial dysfunction, inflammation, hormone synthesis and secretion changes and a series of consequences caused by the above process and is a progressive loss of skeletal muscle syndrome, which can lead to the decrease of muscle strength, physical and functional disorders, and increase the risk of death. Sarcopenia is mainly associated with the aging process, but also related to other causes such as severe malnutrition, neurodegenerative diseases, and disuse and endocrine diseases associated with muscular dystrophy, and it is the comprehensive results of multi-factors, so it is difficult to define that sarcopenia is caused by a specific disease. With the aging problem of the population, the incidence of this disease is increasingly common, and seriously affects the quality of the life of the elderly. This paper reviews the etiology and pathogenesis of myopathy, screening methods and diagnosis, the influence of eating habits, etc, and hopes to provide reference for the diagnosis and treatment of this disease. At present, adequate nutrition and targeted exercise remain the gold standard for the therapy of sarcopenia.

• Food Science of Animal Resources
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• v.38 no.5
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• pp.835-850
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• 2018

The dramatic improvements in the growth rate and breast muscle size and yield in broilers through the intensive genetic selection, and the improvement in nutrition and management over the past 50 years have introduced serious abnormalities that influenced the quality of breast meat. The abnormalities include pale-soft-exudative (PSE) conditions, deep pectoral muscle (DPM) myopathy, spaghetti meat (SM), white striping (WS), and woody breast (WB) that have serious negative implications to the broiler meat industry. The incidences of PSE and DPM have been known for several decades, and their prevalence, etiology and economic impact have been well discussed. However, other abnormalities such as SM, WS and WB conditions have been reported just for few years although these conditions have been known for some time. The newly emerging quality issues in broilers are mainly associated with the Pectoralis major muscles, and the incidences have been increased dramatically in some regions of the world in recent years. As high as 90% of the broilers are affected by the abnormalities, which are expected to cause from $200 million to $1 billion economic losses to the U.S. poultry industry per year. So, this review mainly discusses the histopathological characteristics and biochemical changes in the breast muscles with the emphasis on the newly emerging abnormalities (SM, WS, and WB) although other abnormalities are also discussed. The impacts of the anomalies on the nutritional, functional, mechanical and sensory quality of the meat and their implications to the poultry industry are discussed.

• Korean Journal of Acupuncture
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• v.27 no.4
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• pp.119-127
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• 2010

Objectives : Polymyositis is non-hereditary, autoimmune rheumatic disease, and one of the idiopathic inflammatory myopathy. It is characterized by progressive symmetrical proximal muscle weakness. Major clinical signs and symptoms of polymyositis are chronic non-suppurative inflammatation of skeletal muscle, elevation of muscle enzyme, and electromyographical changes. By use of Korean medicine treatments, muscle weakness and normalize muscle enzyme can be improved in case of polymyositis. Methods : A Patient, 32 years old, whom diagnosed with polymyositis on muscle biopsy and electromyographical changes, had medical treatments with Corticosteroids and Immunosuppressants, but no improvement was noted. She was treated with Korean Medicine, especially Ohaeng-Hwa Acupuncture(五行和 鍼法) and Ssanghwa-Tang(雙和湯) for three months period. Results : With Korean Medicine treatment of polymyositis for three months, most of her clinical signs and symptoms have been improved significantly, especially her muscle weakness and muscle enzyme level. Conclusion : This case has been reported to show that Korean medicine treatments have positive effects on polymyositis.