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.
Niemann-Pick Disease, Type A*

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

Purpose: Diabetic foot ulcers and gangrene are major complications of diabetes, often accompanied by peripheral vascular occlusion.Revascularization is performed to restore blood flow and reduce complications such as amputation surgery. Nevertheless, reocclusion, a frequently reported complication after revascularization, often necessitates further lower limb amputations to facilitate rehabilitation and ambulation. This study examined the factors influencing the performance of secondary revascularization procedures in patients with diabetic foot gangrene who even underwent transtibial amputation (TTA) following revascularization. Materials and Methods: A retrospective study was conducted on 36 patients with diabetic foot gangrene who underwent TTA after revascularization from March 2005 to March 2022. The factors influencing restenosis were classified into three categories: revascularization factors, preoperative factors, and intraoperative factors. The revascularization factors were categorized based on whether percutaneous transluminal angioplasty (PTA) or bypass surgery had been performed. Preoperative factors included the patient’s age, gender, body mass index (BMI), hypertension, and other relevant factors. Intraoperative factors included surgery duration, blood loss, and transfusion. The study examined the factors influencing secondary revascularization in these three categories. Results: Among the 36 patients in the study, 27.8% (11 patients) underwent secondary revascularization procedures. There was no significant correlation between the performance of secondary revascularization and the type of revascularization procedure, whether PTA or bypass surgery (p>0.05). Similarly, no significant differences were observed in preoperative factors (including age, BMI, smoking status, HbA1c, and underlying diseases) and intraoperative factors (surgery duration, blood loss, and transfusion). On the other hand, regarding gender, all patients who underwent revascularization procedures were male, indicating a statistically significant result (p=0.039). Conclusion This study suggests that while most clinical variables showed no association with reocclusion, the fact that all patients who underwent secondary revascularization procedures were male indicates that gender may be a significant predictive factor of revascularization.

Purpose: Diabetic foot ulcers and gangrene are major complications of diabetes, often accompanied by peripheral vascular occlusion.Revascularization is performed to restore blood flow and reduce complications such as amputation surgery. Nevertheless, reocclusion, a frequently reported complication after revascularization, often necessitates further lower limb amputations to facilitate rehabilitation and ambulation. This study examined the factors influencing the performance of secondary revascularization procedures in patients with diabetic foot gangrene who even underwent transtibial amputation (TTA) following revascularization. Materials and Methods: A retrospective study was conducted on 36 patients with diabetic foot gangrene who underwent TTA after revascularization from March 2005 to March 2022. The factors influencing restenosis were classified into three categories: revascularization factors, preoperative factors, and intraoperative factors. The revascularization factors were categorized based on whether percutaneous transluminal angioplasty (PTA) or bypass surgery had been performed. Preoperative factors included the patient’s age, gender, body mass index (BMI), hypertension, and other relevant factors. Intraoperative factors included surgery duration, blood loss, and transfusion. The study examined the factors influencing secondary revascularization in these three categories. Results: Among the 36 patients in the study, 27.8% (11 patients) underwent secondary revascularization procedures. There was no significant correlation between the performance of secondary revascularization and the type of revascularization procedure, whether PTA or bypass surgery (p>0.05). Similarly, no significant differences were observed in preoperative factors (including age, BMI, smoking status, HbA1c, and underlying diseases) and intraoperative factors (surgery duration, blood loss, and transfusion). On the other hand, regarding gender, all patients who underwent revascularization procedures were male, indicating a statistically significant result (p=0.039). Conclusion This study suggests that while most clinical variables showed no association with reocclusion, the fact that all patients who underwent secondary revascularization procedures were male indicates that gender may be a significant predictive factor of revascularization.

Purpose: Diabetic foot ulcers and gangrene are major complications of diabetes, often accompanied by peripheral vascular occlusion.Revascularization is performed to restore blood flow and reduce complications such as amputation surgery. Nevertheless, reocclusion, a frequently reported complication after revascularization, often necessitates further lower limb amputations to facilitate rehabilitation and ambulation. This study examined the factors influencing the performance of secondary revascularization procedures in patients with diabetic foot gangrene who even underwent transtibial amputation (TTA) following revascularization. Materials and Methods: A retrospective study was conducted on 36 patients with diabetic foot gangrene who underwent TTA after revascularization from March 2005 to March 2022. The factors influencing restenosis were classified into three categories: revascularization factors, preoperative factors, and intraoperative factors. The revascularization factors were categorized based on whether percutaneous transluminal angioplasty (PTA) or bypass surgery had been performed. Preoperative factors included the patient’s age, gender, body mass index (BMI), hypertension, and other relevant factors. Intraoperative factors included surgery duration, blood loss, and transfusion. The study examined the factors influencing secondary revascularization in these three categories. Results: Among the 36 patients in the study, 27.8% (11 patients) underwent secondary revascularization procedures. There was no significant correlation between the performance of secondary revascularization and the type of revascularization procedure, whether PTA or bypass surgery (p>0.05). Similarly, no significant differences were observed in preoperative factors (including age, BMI, smoking status, HbA1c, and underlying diseases) and intraoperative factors (surgery duration, blood loss, and transfusion). On the other hand, regarding gender, all patients who underwent revascularization procedures were male, indicating a statistically significant result (p=0.039). Conclusion This study suggests that while most clinical variables showed no association with reocclusion, the fact that all patients who underwent secondary revascularization procedures were male indicates that gender may be a significant predictive factor of revascularization.

Purpose: Diabetic foot ulcers and gangrene are major complications of diabetes, often accompanied by peripheral vascular occlusion.Revascularization is performed to restore blood flow and reduce complications such as amputation surgery. Nevertheless, reocclusion, a frequently reported complication after revascularization, often necessitates further lower limb amputations to facilitate rehabilitation and ambulation. This study examined the factors influencing the performance of secondary revascularization procedures in patients with diabetic foot gangrene who even underwent transtibial amputation (TTA) following revascularization. Materials and Methods: A retrospective study was conducted on 36 patients with diabetic foot gangrene who underwent TTA after revascularization from March 2005 to March 2022. The factors influencing restenosis were classified into three categories: revascularization factors, preoperative factors, and intraoperative factors. The revascularization factors were categorized based on whether percutaneous transluminal angioplasty (PTA) or bypass surgery had been performed. Preoperative factors included the patient’s age, gender, body mass index (BMI), hypertension, and other relevant factors. Intraoperative factors included surgery duration, blood loss, and transfusion. The study examined the factors influencing secondary revascularization in these three categories. Results: Among the 36 patients in the study, 27.8% (11 patients) underwent secondary revascularization procedures. There was no significant correlation between the performance of secondary revascularization and the type of revascularization procedure, whether PTA or bypass surgery (p>0.05). Similarly, no significant differences were observed in preoperative factors (including age, BMI, smoking status, HbA1c, and underlying diseases) and intraoperative factors (surgery duration, blood loss, and transfusion). On the other hand, regarding gender, all patients who underwent revascularization procedures were male, indicating a statistically significant result (p=0.039). Conclusion This study suggests that while most clinical variables showed no association with reocclusion, the fact that all patients who underwent secondary revascularization procedures were male indicates that gender may be a significant predictive factor of revascularization.

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

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.

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