• Journal of Life Science
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• v.31 no.6
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• pp.595-602
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• 2021

Human intestinal microbiota play an important role in the regulation of the host's metabolism. There is a close pathological and physiological interaction between dysbiosis of the intestinal microflora and obesity and metabolic syndrome. Akkermansia muciniphila, which was recently isolated from human feces, accounts for about 1-4% of the intestinal microbiota population. The use of A. muciniphila- derived external membrane protein Amuc_1100 and extracellular vesicles (EVs) could be a new strategy for the treatment of obesity. A. muciniphila is considered a next-generation probiotic (NGP) for the treatment of metabolic disorders, such as obesity. Faecalibacterium prausnitzii accounts for about 5% of the intestinal microbiota population in healthy adults and is an indicator of gut health. F. prausnitzii is a butyrate-producing bacterium, with anti-inflammatory effects, and is considered an NGP for the treatment of immune diseases and diabetes. Postbiotics are complex mixtures of metabolites contained in the cell supernatant secreted by probiotics. Parabiotics are microbial cells in which probiotics are inactivated. Paraprobiotics and postbiotics have many advantages over probiotics, such as clear chemical structures, safe dose parameters, and a long shelf life. Thus, they have the potential to replace probiotics. The most natural strategy to restore the imbalance of the intestinal ecosystem normally is to use NGPs among commensal bacteria in the gut. Therefore, it is necessary to develop new foods or drugs such as parabiotics and postbiotics using NGPs.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.24 no.1
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• pp.1-9
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• 2024

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like episode (MELAS) is a rare maternally inherited disorder primarily caused by mutations in mitochondrial DNA, notably the m.3243A>G mutation in the MT-TL1 gene. This mutation impairs mitochondrial function crucial for cellular energy production, particularly in high-energy-demanding organs such as the brain and muscles. MELAS manifests as recurrent stroke-like episodes, seizures, diabetes mellitus, cardiomyopathy, and other multisystemic symptoms that are often present in childhood. The diagnosis combines genetic testing, clinical evaluation, and neuroimaging, with elevated lactate levels and characteristic magnetic resonance imaging (MRI) findings as key indicators. Treatment focuses on symptomatic management and enhancement of mitochondrial function through L-arginine, coenzyme Q10, high-dose vitamins, and taurine supplementation. Studies have identified additional genetic variants linked to MELAS, including mutations in POLG and other mitochondrial genes, further complicating the genetic landscape. Emerging therapies, particularly gene therapy and mitochondria-targeting drugs, offer promising avenues for addressing the underlying genetic defects and improving mitochondrial functioning. Furthermore, ongoing studies continue to enhance our understanding and management of MELAS, with the aim of reducing its burden and improving patient outcomes and quality of life. This review summarizes the current knowledge on the genetics, clinical features, diagnosis, and treatment of MELAS, highlighting the latest advancements and future directions for therapeutic interventions.

• Pediatric Infection and Vaccine
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• v.29 no.3
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• pp.155-160
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• 2022

Children and adolescents with coronavirus disease 2019 (COVID-19) generally have mild symptoms. Severe infection due to severe acute respiratory syndrome coronavirus 2 (SARSCoV-2) involving multiorgan dysfunction is rare in this population. Herein, we present an unusual case of severe SARS-CoV-2 infection with multiorgan involvement followed by multisystem inflammatory syndrome in children (MIS-C) in a vaccinated 16-year-old boy. The patient was unconscious on initial presentation, and had severe paralytic ileus. On laboratory examination, there was severe metabolic acidosis, lymphocytopenia, thrombocytopenia, elevated inflammatory markers, elevated liver enzymes, and evidence of acute kidney injury with proteinuria and hematuria. His symptoms improved with the administration of remdesivir and dexamethasone. The patient briefly experienced MIS-C 2 weeks after the diagnosis of COVID-19, but the patient was discharged without any complications.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Journal of the Korean Society of Food Science and Nutrition
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• v.41 no.2
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• pp.205-212
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• 2012

This study was performed to investigate the prevalence of metabolic syndrome (MS) and assess nutrient intake levels for the purpose of improving MS risk factors. The participants in this study were 512 adults consisting of 271 men and 241 women aged 30 and over, who visited a public health center for a medical check up. The diagnosis of MS subjects was adapted from the NCEP-ATPIII guidelines and the WHO Asia-Pacific Area criteria for obesity. The MS group was defined as subjects displaying three or more risk factors, and the non MS group was defined as those displaying two or less risk factors. A dietary survey was conducted using the 24-hour recall method. The number of subjects displaying MS syndrome factors was 158 (30.9%), broken down into, 89 men and 69 women. Regarding risk factors in the MS group, the prevalence of waist circumference was 40.5%, hypertension 34.2%, hyperglycemia 31.0%, low HDL-cholesterol 24.7%, and hypertriglycemia 19.6%. BMI, sistolic blood pressure, blood glocose, blood triglyceride, and blood HCL-cholesterol of the MS group were significantly higher compared to the non MS group. Male subjects in the MS group reported high intakes of cereals, sugar, fruits, meat and poultry, oil and fats, and beverages and total food intake was significantly higher compared to the non MS group. Women in the MS group reported high intakes of meat and poultry, milk and dairy products, beverages, and seasonings, and total food intake was higher compared to the non MS group. Dietary diversity score (DDS) was 3.82~4.04, which was not significant among the groups. In men, dietary variety score (DVS) was 16.3 in the MS group and 19.4 in the non MS group, whereas in women, the DVS was 15.2 in the non MS group and 17.0 in the MS group. In GMVDF pattern, 11111 pattern was 30.7%, followed by 01111 for men and 11101 for women. Calorie, fat, and cholesterol intakes in men as well as, calorie, fat, and folate intakes in women in the MS group were higher compared to the non MS group. Intakes of protein, P, Fe, Na, vitamin $B_1$, vitamin $B_2$, niacin, vitamin E, and Zn were higher than the KDRIs. On the other hand, intakes of Ca, K, fiber, vitamin $B_2$, and vitamin C were below the KDRIs. Intakes of lipids, animal food, Na, and cholesterol in the MS group were higher compared to the non MS group, whereas intake of dietary fiber was lower. Our results indicate that continuous, systematic nutritional education program must implemented to reduce the risk factors associated with MS.

• The Journal of the Society of Korean Medicine Diagnostics
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• v.19 no.3
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• pp.159-171
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• 2015

Objectives: Lately, non alcoholic fatty liver patients are increasing rapidly and the average age of patients are getting younger. Non alcoholic fatty liver often represents asymptomatic and korean pattern diagnosis is difficult to implement without symptoms. This study aimed to analyze interrelationship between non alcoholic fatty liver disease and Injinho-tang. Methods The AHP is a systematic procedure for analyzing the elements of any problem hierarchically. Based on survey of expertise, as series of pairwise comparison judgements is performed to evaluate the various elements in the hierarchy. We are expected to use the AHP analysis that would apply to oriental doctor's diagnostic process analysis. Results and conclusion Non-alcoholic fatty liver disease induced complex causes of the metabolic syndrome. Injinho-tang has been widely used disease that causes jaundice and liver biliary disease. According to AHP analysis, LFT is the most important facor in choosing Injinho-tang on non alcoholic fatty liver disease. BMI and body composition by bioelectrical impedance analysis are the next important factors. Personal hot temper also gives a big impact on choicing Injinho-tang on non alcoholic fatty liver disease.

• Journal of Yeungnam Medical Science
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• v.3 no.1
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• pp.375-382
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• 1986

We studied the effects of the acute intermittent peritoneal dialysis in severe acute renal failure of 1 newborn infant and 2 young infants during 18 months period from February 1985 to April 1986. The predisposing illnesses were severe acute gastroenteritis with dehydration. Reye's syndrome, and bilateral nephrolithiasis with hyperuricemia. The concomittent illnesses were severe hypernatremia, hyponatremia, hyperkalemia, hypocalcemia, hypoglycemia, DIC(disseminated intravascular coagulopathy), paralytic ileus, metabolic acidosis and gastrointestinal bleeding. As a dialvsate, Imperinol $solution^R$, 1.5% was used in all cases. The cycles of dialysis were 8, 16, and 41 times in each cases. Observed complications during dialysis were leakage, and abdominal wall and scrotol swelling in 2 cases, hyperglycemia in 1 case, and peritonitis in 1 case. Acinetobacter calcoaceticus was cultured in peritoneal fluid of peritonitis. These complications were treated by stopping dialysis in leakage and abdiminal wall swelling, insulin therapy in hyperglycemia, and intraperitoneal and systemic antibiotics therapy in peritonitis. We experienced improvements of severe acute renal failure with variable concomittant illnesses by acute intermittent peritoneal dialysis despite of the treatable complications of dialysis in all cases.

• Clinical and Experimental Pediatrics
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• v.53 no.10
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• pp.872-879
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• 2010

Obstructive sleep apnea (OSA) in children is a frequent disease for which optimal diagnostic methods are still being defined. Treatment of OSA in children should include providing space, improving craniofacial growth, resolving all symptoms, and preventing the development of the disease in the adult years. Adenotonsillectomy (T&A) has been the treatment of choice and thought to solve young patient's OSA problem, which is not the case for most adults. Recent reports showed success rates that vary from 27.2% to 82.9%. Children snoring regularly generally have a narrow maxilla compared to children who do not snore. The impairment of nasal breathing with increased nasal resistance has a well-documented negative impact on early childhood maxilla-mandibular development, making the upper airway smaller and might lead to adult OSA. Surgery in young children should be performed as early as possible to prevent the resulting morphologic changes and neurobehavioral, cardiovascular, endocrine, and metabolic complications. Close postoperative follow-up to monitor for residual disease is equally important. As the proportion of obese children has been increasing recently, parents should be informed about the weight gain after T&A. Multidisciplinary evaluation of the anatomic abnormalities in children with OSA leads to better overall treatment outcome.

• Journal of Genetic Medicine
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• v.10 no.2
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• pp.81-87
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• 2013

Pseudohypoaldosteronism (PHA), a rare syndrome of systemic or renal mineralocorticoid resistance, is clinically characterized by hyperkalemia, metabolic acidosis, and elevated plasma aldosterone levels with either renal salt wasting or hypertension. PHA is a heterogeneous disorder both clinically and genetically and can be divided into three subgroups; PHA type 1 (PHA1), type 2 (PHA2) and type 3 (PHA3). PHA1 and PHA2 are genetic disorders, and PHA3 is a secondary disease of transient mineralocorticoid resistance mostly associated with urinary tract infections and obstructive uropathies. PHA1 includes two different forms with different severity of the disease and phenotype: a systemic type of disease with autosomal recessive inheritance (caused by mutations of the amiloride-sensitive epithelial sodium channel, ENaC) and a renal form with autosomal dominant inheritance (caused by mutations of the mineralocorticoid receptor, MR). In the kidneys, the distal nephron takes charge of the fine regulation of water absorption and ion handling under the control of aldosterone. Two major intracellular actors necessary for the action of aldosterone are the MR and the ENaC. Impairment of the intracellular aldosterone signal transduction pathway results in resistance to the action of mineralocorticoids, which leads to PHA. Herein, ion handling the distal nephron and the clinico-genetic findings of PHA are reviewed with special emphasis on PHA type 1.

• The Journal of the Korean dental association
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• v.53 no.4
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• pp.238-248
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• 2015

Sleep related breathing disorders(SRBDs) are a group of diseases accompanied by difficulties in respiration and ventilation during sleep. Central sleep apnea, obstructive sleep apnea(OSA), sleep-related hypoventilation, and hypoxemia disorder are included in this disease entity. OSA is known to be the most common SRBDs and studies show its significant correlation with general health problems including hypertension, arrhythmia, diabetes, and metabolic syndrome. The diagnostic process of OSA is composed of physical examinations of the head and neck area and also the oral cavity. Radiologic studies including cephalography, CT, MRI, and fluoroscopy assist in identifying the site of obstruction. However, polysomnography(PSG) is still considered the gold standard for the diagnosis of OSA since it offers both qualitative and quantitative recording of the events during a whole night's sleep. The dentist who is trained in sleep medicine can easily identify patients with the risk of OSA starting from simple questions and screening questionnaires. Diagnosis is the first step to treatment and considering the high rate of under-diagnosis for OSA the dentist may play a substantial role in the diagnosis and treatment of OSA which will eventually lead to the well-being of the patient as a whole person. So the objective of this article is to assist dental professionals in gaining knowledge and insight of the diagnostic measures for OSA including PSG.