• Journal of Medicine and Life Science
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• 제21권3호
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• pp.112-116
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• 2024

Complete left bundle branch block (CLBBB) is a significant cardiac conduction abnormality often associated with dilated cardiomyopathy (DCM). This case report highlights the improvement in CLBBB and symptom relief through reverse cardiac remodeling in a patient diagnosed with DCM following an optimized heart failure treatment regimen consisting of an angiotensin-converting enzyme inhibitor, beta-blocker, and mineralocorticoid receptor antagonist. This case highlights the potential of electrical remodeling and conduction system improvement in patients with DCM receiving optimized medical therapy.

• 한국임상수의학회지
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• 제22권2호
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• pp.130-135
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• 2005

A retrospective study was performed with 9 cases of spontaneous canine hypoadrenocorticism presented to the Veterinary Medical Teaching Hospital of Seoul National University. The disease occurred mostly in young to middle­aged dogs. Most dogs had chronic nonspecific signs such as episodic anorexia, lethargy and vomiting, but 3 dogs were brought to the hospital with an acute adrenal crisis. Serum biochemical analysis revealed azotemia, abnormal concentration of sodium, potassium, and chloride in almost all the patients. Diagnoses were made based on lack of adrenocortical response to exogenous adrenocorticotropic hormone(ACTH). Most dogs have been responded well with mineralocorticoid and glucocorticoid replacement except for a dog which died during treatment for adrenal crisis. Three dogs treated with fludrocortisone acetate(final median dosage, $31.0{\mu}g/kg/day$) for mineralocorticoid supplementation showed some adverse effects, such as excessive appetite and polyuria/polydipsia. In this study, it was suggested that clinicians should also consider hypoadrenocorticism when they diagnose a patient showing nonspecific gastrointestinal signs with unknown cause or laboratory findings which mimic primary renal diseases.

• Journal of Genetic Medicine
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• 제20권1호
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• pp.25-29
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• 2023

The CYP11A1 gene encodes for the cholesterol side-chain cleavage enzyme (P450scc), which initiates steroid hormone biosynthesis. Defective P450scc activity results in severe glucocorticoid and mineralocorticoid deficiencies. We describe a case of P450scc deficiency due to a novel homozygous CYP11A1 variant inherited from the mother with a possibility of uniparental disomy (UPD). The patient was a female, had no family history of endocrine disease, and showed adrenal insufficiency at 13 days of age. Hormonal analysis with an adrenocorticotropic hormone stimulation test showed both glucocorticoid and mineralocorticoid deficiencies, presumed to be a defect of the early stage of steroidogenesis. Exome sequencing reported a novel homozygous frameshift variant of CYP11A1 (c.284_285del, p.Asn95Serfs*10), which was inherited from the mother. Additionally, homozygosity in 15q22.31q26.2, which included CYP11A1, was identified using a chromosomal microarray. It was suggested that the possibility of maternal UPD was involved as the cause of a P450scc deficiency by unmasking the maternally derived affected allele. To our understanding, P450scc deficiency associated with UPD encompassing CYP11A1 had not been reported in Korea before. Genetic analysis can help diagnose rare causes of primary adrenal insufficiency, including P450scc deficiency.

• Mass Spectrometry Letters
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• 제5권2호
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• pp.35-41
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• 2014

Gas chromatography-mass spectrometry (GC-MS) methods have been used extensively in clinical steroid analyses. Evaluating the metabolic ratios of precursors to products by accurate quantification of individual steroid levels in biological samples can reveal the activities of enzymes associated with steroid metabolism. This review article discusses the impact of GC-MS-based steroid profiling on our understanding of the biochemical role of steroids and their metabolic enzymes in hormone-dependent diseases, such as congenital adrenal hyperplasia (CAH), cortisol-mediated hypertension, apparent mineralocorticoid excess (AME), male-pattern baldness, and breast and thyroid cancers. Steroid profiling is a comprehensive analytical technique that can be applied whenever the highest specificity is required and may be a reasonable initial diagnostic approach.

• 한국임상수의학회:학술대회논문집
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• 한국임상수의학회 2008년도 춘계학술대회
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• pp.83-83
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• 2008

• 대한약리학회지
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• 제5권1호
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• pp.57-64
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• 1969

Acetylsalicylic acid, administered intravenously in a dose of 120 mg+250 mg/h, markedly decreased the urinary excretion of sodium and chloride, and slightly depressed potassium excretion, so that the ratio of urinary concentrations of potassium to sodium increased after ASA. Osmolar and free water clearances also diminished during water diuresis, and free water reabsorption $(T^cH_2O)$ decreased after ASA during mannitol diuresis. Glomerular filtration rate and urine flow rate changed little. When infused directly into a renal artery, ASA exhibited identical action on both kidneys, indicating that the renotropic action is mediated by some endogenous humoral agents or by some metabolites of ASA. A dose of 100 mg i.v. of spironolactone, a aldosterone antagonist, slightly reversed the renal reflect when given during maximum action of ASA. Ethacrynic acid could display its full diuretic action unhindered during maximum ASA action. Above observations lead to the suggestion that acetylsalicylic acid might release aldosterone and the action on electrolyte excretion may be mediated by the mineralocorticoid.

• International Journal of Heart Failure
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• 제6권2호
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• pp.47-55
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• 2024

Heart failure with mid-range ejection fraction (HFmrEF) and preserved ejection fraction (HFpEF) represent over half of heart failure cases but lack proven effective therapies beyond sodium-glucose cotransporter 2 inhibitor and diuretics. HFmrEF and HFpEF are heterogeneous conditions requiring precision phenotyping to enable tailored therapies. This review covers concepts on precision medicine approaches for HFmrEF and HFpEF. Areas discussed include HFmrEF mechanisms, anti-inflammatory and antifibrotic treatments for obesity-related HFpEF, If inhibition for HFpEF with atrial fibrillation, and mineralocorticoid receptor antagonism for chronic kidney disease-HFpEF. Incorporating precision phenotyping and matched interventions in HFmrEF and HFpEF trials will further advance therapy compared to blanket approaches.

• Journal of mucopolysaccharidosis and rare diseases
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• 제3권1호
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• pp.28-32
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• 2017

Lipoid congenital adrenal hyperplasia (LCAH) is the severe form of congenital adrenal hyperplasia and is characterized by adrenal insufficiency with hyperpigmentation and female external genitalia irrespective of genetic sex. The steroidogenic acute regulatory protein (StAR) is required for the transport of cholesterol into the mitochondria for steroidogenesis, and defects in the StAR gene account for the majority of LCAH cases. In this report, we present a two-day-old hyperpigmented infant with phenotypical female genitalia. With consideration of the clinical and laboratory findings, the infant was suspected of having adrenal insufficiency due to LCAH and treated with glucocorticoid, mineralocorticoid, and sodium chloride. Karyotyping revealed 46, XY. Upon pelvis ultrasonography, adrenal hyperplasia with abdominal masses (thought to be the testicles) was reported. Molecular analysis with targeted exome sequencing revealed the homozygote mutation of c.772C>T ($p.Q258^*$) in exon 7 of the StAR gene. The early detection and treatment of adrenal insufficiency in infants with hyperpigmentation can prevent clinically apparent adrenal crises. During follow-up, the patient had a good clinical condition and maintained normal electrolyte and adrenocorticotropic hormone levels with medication.

• Nutrition Research and Practice
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• 제11권5호
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• pp.388-395
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• 2017

BACKGROUND/OBJECTIVES: Although Korean fermented foods contain large amounts of salt, which is known to exacerbate health problems, these foods still have beneficial effects such as anti-hypertension, anti-cancer, and anti-colitis properties. We hypothesized that ganjang may have different effects on blood pressure compared to same concentrations of salt. MATERIALS/METHODS: Sprague-Dawley rats were divided into control (CT), NaCl (NC), and ganjang (GJ) groups and orally administered with 8% NaCl concentration for 9 weeks. The systolic blood pressure (SBP), serum chemistry, $Na^+$ and $K^+$ concentrations and renal gene expressions were measured. RESULTS: The SBP was significantly increased in the NC group compared to the GJ and CT groups. In addition, the $Na^+$ concentration in urine was higher in the GJ and NC groups than the CT group, but the urine volume was increased in the GJ group compared to the other groups. The serum renin levels were decreased in the GJ group compared to the CT group, while the serum aldosterone level was decreased in the GJ group relative to the NC group. The mRNA expression of the renin, angiotensin II type I receptor, and mineralocorticoid receptor were significantly lower in the GJ group compared to other groups. Furthermore, GJ group showed the lowest levels of genes for $Na^+$ transporter in kidney cortex such as $Na^+/K^+$ $ATPase{\alpha}1$ ($NKA{\alpha}1$), $Na^+/H^+$ exchanger 3 (NHE3), $Na^+/HCO_3{^-}$ co-exchanger (NBC), and carbonic anhydrases II (CAII). CONCLUSIONS: The decreased SBP in the GJ could be due to decreased renin and aldosterone levels in serum and increased urinary volume and excretion of $Na^+$ with its transporter gene alteration. Therefore, ganjang may have antihypertensive effect despite its high contents of salt.

• 동의생리병리학회지
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• 제31권6호
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• pp.313-327
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• 2017

The purpose of this study is to predict the effects of macroscopic and integrative therapies by finding active ingredients, potential targets of Astragalus membranaceus (Am) and Cornus officinalis (Co) for diabetic nephropathy. We have constructed network pharmacology-based systematic and network methodology by system biology, chemical structure, chemogenomics. We found several active ingredients of Astragalus membranaceus (Am) and Cornus officinalis (Co) that were speculated to bind to specific receptors which had been known to have a role in the progression of diabetic nephropathy. Four components of Am and eleven components of Co could bind to iNOS; two ingredients of Am and six ingredients of Co could docking to cGB-PDE; one component of Am and nine components of Co could bind to ACE; three ingredients of Co with neprilysin; three components of Co with ET-1 receptor; four ingredients of Am and fourteen ingredients of Co with mineralocorticoid receptor; one component of Am and seven components of Co with interstitial collagenase; one ingredient of Am and ten ingredients of Co with membrane primary amine oxidase; one component of Am and four components of Co with JAK2; two ingredients of Am and one ingredient of Co with MAPK 12; one component of Am and five components of Co could docking to TGF-beta receptor type-1. From this work we could speculate that the possible mechanisms of Am and Co for diabetic nephropathy are anti-inflammatory, antioxidant and antihypertensive effects.