Distal renal tubular acidosis (RTA) is a biochemical syndrome as a deficiency of hydrogen in secretion by the distal tubule and collecting duct. Owing to the nature of the defect, hyperchloremic non-anion gap metabolic acidosis and high urine pH despite severe systemic acidosis is characterized. Typical manifestations of distal RTA are growth retardation, rickets, polyuria and nephrocalcinosis. We experienced a case of distal renal tubular acidosis in a 4 years old female child who complained of growth retardation and gait disturbance. She showed typical hyperchloremic non-anion gap metabolic acidosis and persistent high urine pH. In radiographic examination. we found delayed bone age and severe rachitic changes of wrist, elbow, and knee as well as nephrocalcinosis. In ammonium chloride loading test, high urine pH persisted despite the lowering blood HCO3- concentration. After alkali therapy, she is in well condition with excellent growth velocity and absence of rachitic changes.
Acidosis ; Acidosis, Renal Tubular* ; Alkalies ; Ammonium Chloride ; Child ; Child, Preschool ; Elbow ; Female ; Gait ; Humans ; Hydrogen ; Hydrogen-Ion Concentration ; Knee ; Nephrocalcinosis ; Polyuria ; Rickets ; Wrist

No abstract available.
Adenoma* ; Humans ; Infant, Newborn*

No abstract available.
Niemann-Pick Disease, Type A*

BACKGROUND: Proximal humerus fracture is considered to be the third most common fracture for patients aged 65 years or older. Conservative treatment has been known to treat most of humerus fracture. However, fractures with severe displacement or dislocation may require surgical treatment. Intramedullary fibular allograft with a locking plate is frequently used in patients accompanying medial metaphyseal disruption. In this study, author intends to evaluate clinical and imaging results based on patients who underwent surgical treatment using fibular allograft with a locking plate. METHODS: This study is conducted prospectively at Wonju Severance Christian Hospital, targeting patients who previously underwent surgical treatment using open reduction and intramedullary fibular allograft with a locking plate between 2011 and 2015. A total of 26 patients were evaluated on the following: postoperational clinical assessment measuring Constant score, American Shoulder and Elbow Society (ASES) score, and the Disabilities of the Arm, Shoulder and Hand (DASH) score. Postoperational imaging assessments are evaluated via measuring the neck-shaft angle. The study subject were Neer classification type 3, 4 proximal humerus fracture cases with disrupted medial hinge and having cortical comminution in the region of the surgical neck. RESULTS: The average period of progression was 22.5 months, and the average age of patients was 72.6 years. At the final follow-up, the average Constant, average ASES, and average DASH scores were 80.1, 78.5, and 20.6 respectively. The average neck-shaft angle was 127.5°. CONCLUSIONS: In conclusion, fibular allograft augmentation with a locking plate showed satisfying results in both clinical and imaging studies.

In this animal study, comedones were induced by topical application of oleic acid onto the rabbit ear canal and the histopathologic and ultrastructural changes in response to topical application of HO and hexane extracts of red ginseng, and saponin were measured. No microscopical difference was observed between treatment groups. Nucle ir remnants were observed in the horny cell layer as well as the thinning of the granular cell layer. Scattered and decreased keratohyaline granules were also noted. Six weeks after initiation of treatment, we observed the thinning of epidermis and veappearance of granular cell layer with normal keratohyaline granules. After treatment, scanning electron microscopy showed a decrease in the size of comedones, and loosened and desquamating horny cells in the comedones. From the above results, it could be concluded that Panax ginseng extracts might have effects on the keratinization process of the skin.
Animals ; Ear Canal ; Epidermis ; Microscopy, Electron, Scanning ; Oleic Acid ; Panax* ; Saponins ; Skin

To evaluate the reproducibility of the Ambulatory Electrocardiography (AECG), we examined the consistency rates of premature beats between the baseline AECG's and the repeat AECG's in 23 patients who underwent AECG's times within 1 year. 12 patients were male and 11 patients were female. Their mean age was 48 years. (Range ; 20 years-75 years) The time interval between both AECG's was 1 month 20 days. (Range ; 1 day-9months) They did not take any antiarrhythmic druge during the observation period except 4 patients who were taking calcium channel blockers or beta receptor blockers for hypertensive heart disease or ischemic heart disease. The consistency rate of both frequency and complexity of ventricular premature beats was 52%. The consisency rate of both frequency and complexity of supraventicular premature beats was 35%. These consistency rates seemed to vary as the time interval between both AECG's differed. In the case of ventricular premature beats, the consistency rates of 1 day, 8 days and 5 months as the time interval were 100%, 38% and 14% respectively. In the case of supraventricular premature beats, the consistency rates were 50%, 25% and 29%. We concluded that the reproducility of the AECG was low and this reproducibility became lower as the time interval between both AECG's became longer and that hese facts had to be considered when the effect of the antiarrhythmic drugs was evaluated.
Anti-Arrhythmia Agents ; Calcium Channel Blockers ; Cardiac Complexes, Premature ; Electrocardiography, Ambulatory* ; Female ; Heart Diseases ; Humans ; Male ; Myocardial Ischemia

Phenylketonuria is metabolic disorder that results from a deficiency of the hepatic phenylalanine hydroxylase. But among patients with hyperphenylalaninemia, the defect resides in one of the enzymes necessary for production or recycling of tetrahydrobiopterin (BH4). The reduction of BH4 affects not only phenylalanine metabolism but also formation of the tyrosine related neurotransmitter, dopamin and tryptophan related neurotransmitter, serotonin. Administration of L-dopa and 5-hydroxytriptophan seems to be the most effective treatment and may prevent irreversible neurologic damage if started early in life in hyperphenylalaninemia due to deficiency of cofactor BH4. Therefore, all patients with PKU and hyperphenylalaninemia should be tested for BH4 deficiency as early as passible. So we measured reduced forms of biopterin in urines of 19 phenylketonuria patients by Funkushima and Nixon method and 13 of PKU patients measured dihydropterin reductase (DHPR) in white blood cells by modified Narisawa method. We could not find abnormal pterin patterns of cofactor BH4 and normal value of DHPR. All Korean 19 PKU children were classic PKU. A missense mutation has been identified in the phenylalanine hydroxylase (PAH) gene of 16 Koran PKU patients. 5 mutations (IVS4, Y204 C, R243Q, Y356 X, R413 P) have been identified. The frequency of these mutations was found to be 50% of PKU alleles. The IVS4 mutation had a high frequency in Korea and southern China, due to the result of the founder effect and genetic drift. the R413 P mutation, which may have originated in the regions surrounding the Baikal, expanded to northen China and Japan. We were not able to find Caucasian mutations in Korean ptiets. PKU mutations occured after racial divergence between Caucasian and Mongoloids. We observed that PKU patients with Y 204 C and R413 P mutations showed mild mild clinical phenotype but IVS4 mutation had severe mental retardation. the establishment of genotype will therefore aid in the prediction of clinical phenotypes in patients with this disease. So, pterin and DHPR measurement and DNA analsis will be useful for prognosis and proper treatment of PKU patients.
Alleles ; Biopterin ; Child ; China ; DNA* ; Founder Effect ; Genetic Drift ; Genotype ; Humans ; Intellectual Disability ; Japan ; Korea ; Leukocytes ; Levodopa ; Metabolism ; Mutation, Missense ; Neurotransmitter Agents ; Oxidoreductases ; Phenotype ; Phenylalanine ; Phenylalanine Hydroxylase ; Phenylketonurias ; Prognosis ; Recycling ; Reference Values ; Serotonin ; Tryptophan ; Tyrosine

No abstract available.
Phenylketonurias*

In rotator cuff repair, the long head of the biceps tendon (LHB) is commonly used as graft material. However, factors influencing LHB tear severity are poorly understood, and predicting grade II LHB tears is challenging. This study aimed to identify these factors preoperatively. Methods: The demographics, medical parameters, and pain severity of 750 patients who underwent arthroscopic surgery from January 2010 to February 2021 were evaluated to determine the factors associated with LHB tear severity and grade II tears. Both overall and largeto-massive rotator cuff tear (RCT) cohorts underwent ordinal and binary logistic regression analyses. Predictive accuracy for grade II LHB tears was determined using the area under the receiver operating characteristic curve (AUC). Results: In the overall cohort, high-sensitivity C-reactive protein (hs-CRP) >1 mg/L (P<0.001), subscapularis tear (P<0.001), hypothyroidism (P=0.031), and the tangent sign (P=0.003) were significantly associated with LHB tear severity, and hs-CRP>1 mg/L, subscapularis tear, and Patte retraction degree were significantly associated with grade II LHB tears (P<0.001). In the large-to-massive RCT cohort, hs-CRP>1 mg/L, hypertension, and age ≥50 years (P<0.05) were significantly associated with LHB tear severity, and hs-CRP>1 mg/L (P<0.001) and hypertension (P=0.026) were significantly associated with grade II LHB tears. In both cohorts, hs-CRP >1 mg/L demonstrated good predictive accuracy for grade II LHB tears (AUCs: 0.72 and 0.70). Conclusions: Serum hs-CRP >1 mg/L is associated with LHB tear severity and serves as a reliable predictor of grade II LHB tears, facilitating preoperative assessment of the LHB as potential graft material in arthroscopic rotator cuff repair. Level of evidence: III.

No abstract available.
Sarcoma, Alveolar Soft Part* ; Vagina*