Tetrahydrobiopterin(BH4) deficiency is a rare type of hyperphenylalaninemia and usually leads to a progressive neurologic deterioration despite early dietary control of blood phenylalanine concentration. We experienced two cases of BH4 deficiency in brother and sister, confirmed by biochemical study of blood and urine. They had suffered from a progressive neurologic illness such as mental retardation, severe hypotonia, seizure, and athetotic movements started at 3 months of their age. Blood amino-acid analysis showed mild hyperphenylalaninemia with elevated urinary neopterin, and reduced urinary biopterin. Their neurologic deteriorations were dramatically improved after replacement of BH4 and dopamine agonist.
Biopterin ; Dopamine Agonists ; Humans ; Intellectual Disability ; Muscle Hypotonia ; Neopterin ; Phenylalanine ; Phenylketonurias* ; Seizures ; Siblings

Recent studies have shown that circulating microRNAs are a potential biomarker in various types of malignancies. The aim of this study was to investigate the feasibility of using serum exosomal microRNAs as novel serological biomarkers for hepatocellular carcinoma (HCC) in patients with chronic hepatitis B (CHB). We measured the serum exosomal microRNAs and serum circulating microRNAs in patients with CHB (n=20), liver cirrhosis (LC) (n=20) and HCC (n=20). Serum exosomal microRNA was extracted from 500 mul of serum using an Exosome RNA Isolation kit. The expression levels of microRNAs were quantified by real-time PCR. The expression levels of selected microRNAs were normalized to Caenorhabditis elegans microRNA (Cel-miR-39). The serum levels of exosomal miR-18a, miR-221, miR-222 and miR-224 were significantly higher in patients with HCC than those with CHB or LC (P<0.05). Further, the serum levels of exosomal miR-101, miR-106b, miR-122 and miR-195 were lower in patients with HCC than in patients with CHB (P=0.014, P<0.001, P<0.001 and P<0.001, respectively). There was no significant difference in the levels of miR-21 and miR-93 among the three groups. Additionally, the serum levels of circulating microRNAs showed a smaller difference between HCC and either CHB or LC. This study suggests that serum exosomal microRNAs may be used as novel serological biomarkers for HCC.
Adult ; Aged ; Biomarkers, Tumor/blood/genetics ; Carcinoma, Hepatocellular/blood/diagnosis/*genetics ; Exosomes/genetics ; Female ; Gene Expression Profiling ; Humans ; Liver/pathology ; Liver Neoplasms/blood/diagnosis/*genetics ; Male ; MicroRNAs/blood/*genetics ; Middle Aged

Fibrodysplasia ossificans progressive (FOP) is an extremely rare disabling disorder characterized by progressive heterotopic ossification associated with congenital digital malformations. The purpose of this study is to delineate the problems in diagnosis and treatment of this rare disease, and to present their solutions. Nine Korean FOP patients have been followed up for average 7.2 years. Their medical records and radiographs were reviewed, and they were reexamined directly or interviewed by telephone. There were 6 female and 3 male patients. The age at the time of this study averaged 13.3 years (range, 4 to 23). In 5 cases, the first clinical manifestation was migrating scalp and neck mass at the age of 1-2 years. The diagnosis was delayed for 3 year and 5 months at average although all the patients had pathognomonic big toe anomaly. Surgical excision of heterotopic ossification in an attempt to increase the joint motion was performed in 4 cases but in vain. Posterior spinal fusion in 1 case failed to prevent progression of scoliosis and trunk decompensation. Disodium etidronate, tried in 3 patients, brought no effective symptom relief. All the patients in their 20's were household ambulators. Understanding the clinical manifestation of this disease enables early diagnosis, by which unnecessary and harmful procedures such as surgical biopsy or excision can be avoided, although no effective treatment has been developed.
Biopsy ; Diagnosis ; Early Diagnosis ; Etidronic Acid ; Family Characteristics ; Female ; Humans ; Joints ; Male ; Medical Records ; Myositis Ossificans* ; Neck ; Ossification, Heterotopic ; Rare Diseases ; Scalp ; Scoliosis ; Spinal Fusion ; Telephone ; Toes

BACKGROUND: These days, lung volume reduction surgery (LVRS) is used as an alternative or a bridge operation to lung transplantation in treating patients with severe emphysema. The procedure can be used in patients with pulmonary nodules combined with severe emphysema. We report the results of 21 months follow up after lung volume reduction surgery in 7 cases including 2 cases of concurrent resection of pulmonary nodules. MATERIAL AND METHOD: Seven patients with emphysema, including 2 cases of preoperatively suspected lung cancer were operated with LVRS technique between July 1996 and June 1997. RESULT: Postoperative mortality was observed in a case of squamous cell carcinoma in LUL with brain metastasis, detected at postoperative 13months. Average of 21months(19-25months) follow up was done for other cases without specific events. CONCLUSION: LVRS is a useful operation in the treatment of patients with severe emphysema, but further evaluation should be done about the long term results and precise criteria for patient selection. Simultaneous LVRS and tumor resection could be done in patients with emphysema with marginal reserve in the hope of maximizing postoperative lung functions.
Brain ; Carcinoma, Squamous Cell ; Emphysema* ; Follow-Up Studies ; Hope ; Humans ; Lung Neoplasms ; Lung Transplantation ; Lung* ; Mortality ; Neoplasm Metastasis ; Patient Selection ; Pneumonectomy*

Angiotensin II type 1 receptor blocker (ARB), which is frequently prescribed in patients with glomerulonephritis (GN), is suggested to increase the risk of cancer. We registered 3,288 patients with renal biopsy and analyzed the relationship between the use of renin-angiotensin-aldosterone system (RAAS) blockade and the incidence of cancer or cancer mortality. After renal biopsy, cancer developed in 33 patients with an incidence rate of 1.0% (95% of CI for incidence: 0.7%-1.3%). There was no difference in the cancer incidence among the groups according to the use of angiotensin-converting enzyme inhibitors (ACEI) or ARB: 1.2% in the None (23/1960), 0.7% in the ARB-only (5/748), 0.4% in the ACEI-only (1/247), and 1.2% in the ACEI-ARB (4/333) (P = 0.487) groups. The cancer mortality was 2.1%, 0.4%, 0.0%, and 0.3% in None, ACEI-only, ARB-only, and ACEI-ARB group, respectively (P < 0.001). The risk of cancer mortality in patients with ARB was only 0.124 (0.034-0.445) compared to that of non-users of ARB by Cox's hazard proportional analysis. In conclusion, prescription of ACEI or ARB in patients with GN does not increase cancer incidence and recipients of ARB show rather lower rates of all-cause mortality and cancer mortality.
Adult ; Aged ; Angiotensin II Type 1 Receptor Blockers/*therapeutic use ; Angiotensin-Converting Enzyme Inhibitors/*therapeutic use ; Female ; Follow-Up Studies ; Glomerulonephritis/complications/diagnosis/*drug therapy ; Humans ; Incidence ; Kidney/pathology ; Male ; Middle Aged ; Neoplasms/complications/*epidemiology/mortality ; Renin-Angiotensin System/*drug effects ; Retrospective Studies ; Risk Factors

Angiotensin II type 1 receptor blocker (ARB), which is frequently prescribed in patients with glomerulonephritis (GN), is suggested to increase the risk of cancer. We registered 3,288 patients with renal biopsy and analyzed the relationship between the use of renin-angiotensin-aldosterone system (RAAS) blockade and the incidence of cancer or cancer mortality. After renal biopsy, cancer developed in 33 patients with an incidence rate of 1.0% (95% of CI for incidence: 0.7%-1.3%). There was no difference in the cancer incidence among the groups according to the use of angiotensin-converting enzyme inhibitors (ACEI) or ARB: 1.2% in the None (23/1960), 0.7% in the ARB-only (5/748), 0.4% in the ACEI-only (1/247), and 1.2% in the ACEI-ARB (4/333) (P = 0.487) groups. The cancer mortality was 2.1%, 0.4%, 0.0%, and 0.3% in None, ACEI-only, ARB-only, and ACEI-ARB group, respectively (P < 0.001). The risk of cancer mortality in patients with ARB was only 0.124 (0.034-0.445) compared to that of non-users of ARB by Cox's hazard proportional analysis. In conclusion, prescription of ACEI or ARB in patients with GN does not increase cancer incidence and recipients of ARB show rather lower rates of all-cause mortality and cancer mortality.
Adult ; Aged ; Angiotensin II Type 1 Receptor Blockers/*therapeutic use ; Angiotensin-Converting Enzyme Inhibitors/*therapeutic use ; Female ; Follow-Up Studies ; Glomerulonephritis/complications/diagnosis/*drug therapy ; Humans ; Incidence ; Kidney/pathology ; Male ; Middle Aged ; Neoplasms/complications/*epidemiology/mortality ; Renin-Angiotensin System/*drug effects ; Retrospective Studies ; Risk Factors

Langerhans cell histiocytosis (LCH) is reported less frequently in adults than in children. The most common site of involvement in adults is the bone, accounting for 30-50% of cases. The gastrointestinal tract is very rare, accounting for approximately 2%. We present a case of Langerhans cell histiocytosis that simultaneously invaded multiple organs, including the stomach and colon, in an adult. A 37-year-old woman with no underlying disease complained of chest discomfort and a palpable right submandibular mass. A right Level II neck mass and mediastinal LN enlargement were confirmed on the pharynx and chest CT scan. Multiple subepithelial masses with central ulceration and erosion were observed in the corpus and fundus on the esophagogastroduodenoscopy and in the right colon on the colonoscopy. The histopathology findings were the same in each tissue biopsied from the stomach, colon, and right neck lymph nodes. Langerhans cells with classical reniform nuclei and prominent eosinophils invaded the normal glands, and S100 and CD1a were positive in the immunohistochemical stain. Gastrointestinal involvement of LCH in adults is rare, asymptomatic,and can involve multiple digestive organs simultaneously, so upper endoscopy and colonoscopy should be considered for a diagnosis.

Background: The obesity epidemic is associated with the emergence of new kidney diseases including obesity-related glomerulopathy (ORG) and metabolic syndrome-associated disorders. However, the effects of obesity on prevalence and outcome of biopsy-proven kidney disease are not well known. Methods: We analyzed 14,492 kidney biopsies in 18 hospitals from 1979 to 2018 in Korea.Obesity was defined as a body mass index value of ≥ 30 kg/m 2 . Results: The most common disease was IgA nephropathy (IgAN) in both obese and nonobese participants (33.7% vs. 38.9%). Obesity was associated with a higher risk of focal segmental glomerulosclerosis (FSGS) and hypertensive nephropathy (HT-N) (odds ratio [OR], 1.72, 95% confidence interval [CI], 1.37–2.17; OR, 1.96, 95% CI, 1.21–3.19) and a lower risk of IgAN (OR, 0.74, 95% CI, 0.62–0.88). During the median follow up of 93.1 ± 88.7 months, obesity increased the risk of end-stage kidney disease (ESKD) in patients with IgAN (relative risk [RR], 1.49, 95% CI, 1.01–2.20) and lupus nephritis (LN) (RR, 3.43, 95% CI, 1.36–8.67). Of 947 obese individuals, ORG was detected in 298 (31.5%), and 230 participants had other kidney diseases, most commonly, IgAN (40.9%) followed by diabetic nephropathy (15.2%). Participants with ORG, when combined with other renal diseases, showed higher risks for developing ESKD compared to those with ORG alone (RR, 2.48, 95% CI, 1.09–5.64). Conclusion Obesity is associated with an increased risk of FSGS and HT-N, and also increase the ESKD risk in IgAN and LN patients. ORG in obese participants may have favorable renal outcomes if it occurs alone without any other renal disease.

Background: Although emerging evidence suggest acute kidney injury (AKI) progress to chronic kidney disease (CKD), long-term renal outcome of AKI still remains unclear. Acute tubular necrosis (ATN) is the most common cause of AKI due to ischemia, toxin or sepsis. Acute interstitial nephritis (AIN), caused by drugs or autoimmune diseases is also increasingly recognized as an important cause of AKI. Unlike glomerular diseases, AKI is usually diagnosed in the clinical context without kidney biopsies, and lack of histology might contribute to this uncertainty. Methods: Among 8,769 biopsy series, 253 adults who were histologically diagnosed with ATN and AIN from 1982 to 2018 at five university hospitals were included. Demographic and pathological features that are associated with the development of end stage renal disease (ESRD) were also examined. Results: Rate of non-recovery of renal function at 6 month was significantly higher in the AIN (ATN vs AIN 49.3 vs 69.4%, P = 0.007) with a 2.71-fold higher risk of non- recovery compared to ATN (95% confidence interval [CI], 1.20–6.47). During the mean follow up of 76.5 ± 91.9 months, ESRD developed in 39.4% of patients with AIN, and 21.5% patients of ATN. The risk of ESRD was significantly higher in AIN (23.05; 95% CI, 2.42–219.53) and also in ATN (12.14; 95% CI, 1.19–24.24) compared to control with non-specific pathology. Older age, female gender, renal function at the time of biopsy and at 6 months, proteinuria and pathological features including interstitial inflammation and fibrosis, tubulitis, vascular lesion were significantly associated with progression to ESRD. Conclusion Our study demonstrated that patients with biopsy proven ATN and AIN are at high risk of developing ESRD. AIN showed higher rate of non-renal recovery at 6 month than ATN.

BACKGROUND: Because conventional echocardiographic parameters have several limitations, strain echocardiography has often been introduced in clinical practice. However, there are also obstacles in using it in clinical practice. Therefore, we wanted to find the current status of awareness on using strain echocardiography in Korea. METHODS: We conducted a nationwide survey to evaluate current use and awareness of strain echocardiography from the members of the Korean Society of Echocardiography. RESULTS: We gathered total 321 questionnaires from 25 cardiology centers in Korea. All participants were able to perform or interpret echocardiographic examinations. All participating institutions performed strain echocardiography. Most of our study participants (97%) were aware of speckle tracking echocardiography and 185 (58%) performed it for clinical and research purposes. Two-dimensional strain echocardiography was the most commonly used modality and left ventricle (LV) was the most commonly used cardiac chamber (99%) for clinical purposes. Most of the participants (89%) did not think LV strain can replace LV ejection fraction (LVEF) in their clinical practice. The common reasons for not performing routine use of strain echocardiography was diversity of strain measurements and lack of normal reference value. Many participants had a favorable view of the future of strain echocardiography. CONCLUSION: Most of our study participants were aware of strain echocardiography, and all institutions performed strain echocardiography for clinical and research purposes. However, they did not think the LV strain values could replace LVEF. The diversity of strain measurements and lack of normal reference values were common reasons for not using strain echocardiography in clinical practice.
Cardiology ; Echocardiography* ; Heart Ventricles ; Korea* ; Reference Values