Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few studies have been conducted that focused on the molecular analysis of FHR in Koreans. Eighteen mutations of the PHEX gene have been identified to this date in Korea. Herein, we report the clinical case of a 24-month-old boy presenting with bowed legs and short stature. The biochemical profile showed hypophosphatemia with decreased tubular reabsorption of phosphate. Several family members were identified with short stature and genu varum. Therefore, he was diagnosed with FHR. To identify the molecular causes of FHR, we performed targeted gene panel sequencing and found a novel hemizygous missense variant, c.1949T>C (p.Leu650Pro), in the PHEX gene. This variant was also detected in the boy’s mother who exhibited genu varum and short stature.

BACKGROUND: In the present multi-institutional study, the prevalence and clinicopathologic characteristics of non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) were evaluated among Korean patients who underwent thyroidectomy for papillary thyroid carcinoma (PTC).METHODS: Data from 18,819 patients with PTC from eight university hospitals between January 2012 and February 2018 were retrospectively evaluated. Pathology reports of all PTCs and slides of potential NIFTP cases were reviewed. The strict criterion of no papillae was applied for the diagnosis of NIFTP. Due to assumptions regarding misclassification of NIFTP as non-PTC tumors, the lower boundary of NIFTP prevalence among PTCs was estimated. Mutational analysis for BRAF and three RAS isoforms was performed in 27 randomly selected NIFTP cases.RESULTS: The prevalence of NIFTP was 1.3% (238/18,819) of all PTCs when the same histologic criteria were applied for NIFTP regardless of the tumor size but decreased to 0.8% (152/18,819) when tumors ≥1 cm in size were included. The mean follow-up was 37.7 months and no patient with NIFTP had evidence of lymph node metastasis, distant metastasis, or disease recurrence during the follow-up period. A difference in prevalence of NIFTP before and after NIFTP introduction was not observed. BRAF(V600E) mutation was not found in NIFTP. The mutation rate for the three RAS genes was 55.6% (15/27).CONCLUSIONS: The low prevalence and indolent clinical outcome of NIFTP in Korea was confirmed using the largest number of cases to date. The introduction of NIFTP may have a small overall impact in Korean practice.
Carcinoma, Papillary ; Diagnosis ; Follow-Up Studies ; Genes, ras ; Hospitals, University ; Humans ; Korea ; Lymph Nodes ; Mutation Rate ; Neoplasm Metastasis ; Pathology ; Prevalence ; Protein Isoforms ; Recurrence ; Retrospective Studies ; Thyroid Gland ; Thyroid Neoplasms ; Thyroidectomy

Alterations in sulfur amino acid metabolism are associated with an increased risk of a number of common late-life diseases, which raises the possibility that metabolism of sulfur amino acids may change with age. The present study was conducted to understand the age-related changes in hepatic metabolism of sulfur amino acids in 2-, 6-, 18- and 30-month-old male C57BL/6 mice. For this purpose, metabolite profiling of sulfur amino acids from methionine to taurine or glutathione (GSH) was performed. The levels of sulfur amino acids and their metabolites were not significantly different among 2-, 6- and 18-month-old mice, except for plasma GSH and hepatic homocysteine. Plasma total GSH and hepatic total homocysteine levels were significantly higher in 2-month-old mice than those in the other age groups. In contrast, 30-month-old mice exhibited increased hepatic methionine and cysteine, compared with all other groups, but decreased hepatic S-adenosylmethionine (SAM), S-adenosylhomocysteine and homocysteine, relative to 2-month-old mice. No differences in hepatic reduced GSH, GSH disulfide, or taurine were observed. The hepatic changes in homocysteine and cysteine may be attributed to upregulation of cystathionine β-synthase and down-regulation of γ-glutamylcysteine ligase in the aged mice. The elevation of hepatic cysteine levels may be involved in the maintenance of hepatic GSH levels. The opposite changes of methionine and SAM suggest that the regulatory role of SAM in hepatic sulfur amino acid metabolism may be impaired in 30-month-old mice.
Aging ; Amino Acids, Sulfur ; Animals ; Child, Preschool ; Cystathionine ; Cysteine ; Down-Regulation ; Glutathione ; Homocysteine ; Humans ; Infant ; Male* ; Metabolism* ; Metabolomics ; Methionine ; Mice* ; Plasma ; S-Adenosylhomocysteine ; S-Adenosylmethionine ; Sulfur* ; Taurine ; Up-Regulation

PURPOSE: The purpose of this study was to investigate the effect of customer experience management on nursing service satisfaction of cancer patients and their intent to revisit the hospital and also to identify empathy ability of oncology nurses. METHODS: Participants were 376 cancer patients and 190 oncology nurses from a tertiary hospital in Korea. Cancer patients' satisfaction with nursing care and intent to continue using the hospital were measured and empathy of oncology nurses was measured using Empathy Construct Rating Scale. Data were analyzed using descriptive statistics, χ² test, t-test, one-way ANOVA and stepwise multiple regression analysis. RESULTS: Patient satisfaction with nursing care and intent to continue using the hospital were higher in patients who received the customer experience management program than those who did not. Oncology nurses' ability to empathize was high. Clinical career, participate in customer experience management and education level together explained 20% of variance in empathy ability of oncology nurses. CONCLUSION: Findings from this study confirm that customer experience management affects patient satisfaction with nursing service and intent to continue using the hospital. Further research is necessary to reaffirm the empathy ability of the oncology nurses and to identify the related various factors.
Education ; Empathy ; Humans ; Korea ; Nursing Care ; Nursing Services ; Patient Satisfaction ; Tertiary Care Centers

PURPOSE: The aims of this study were to present the ultrasonographic (US) features of metastatic renal cell carcinoma (RCC) in the thyroid gland and to evaluate the diagnostic utility of fineneedle aspiration (FNA) and core needle biopsy (CNB). METHODS: Eight patients with nine metastatic RCC nodules in the thyroid glands who were treated from January 2002 to March 2015 in a single tertiary hospital were consecutively selected and retrospectively reviewed. US features and clinical history were obtained from the institution's medical database. FNA was performed nine times on eight nodules and CNB was performed six times on six nodules. The diagnostic utility of FNA and CNB was evaluated. RESULTS: All nine nodules showed mass formation without diffuse thyroid involvement. On ultrasonography, metastatic RCC nodules were solid (100%), hypoechoic (100%), and oval-shaped nodules with a well-defined smooth margin (88.9%) and increased vascularity (100%, with 55% showing extensive vascularity). No calcifications were noted in any nodules. Lymph node metastasis and direct extension to nearby structures beyond the thyroid gland were not found. One FNA (11%) was able to confirm metastatic RCC, whereas all six CNBs confirmed metastatic RCC. CONCLUSION: Metastatic RCC appears as oval-shaped hypoechoic solid nodules with well-defined smooth margins, no calcifications, and increased vascularity on ultrasonography. Characteristic US features along with a previous history of RCC should raise clinical suspicion, and CNB should be performed to make an accurate diagnosis.
Biopsy, Fine-Needle ; Biopsy, Large-Core Needle* ; Carcinoma, Renal Cell* ; Diagnosis ; Humans ; Lymph Nodes ; Neoplasm Metastasis ; Retrospective Studies ; Tertiary Care Centers ; Thyroid Gland* ; Ultrasonography

OBJECTIVES: To investigate cognition, social adaptive functioning, behavior, and emotional development in the preschool period and to determine the effects of the age of onset of walking on those developmental areas in children who were born preterm without major neurodevelopmental impairments (NDI) early in life. METHODS: Fifty-eight children who were born preterm without major NDI early in life participated in this study. The Korean versions of the Wechsler Preschool and Primary Scale of Intelligence or the Bayley Scales of Infant Development, the social maturity scale, the Korean version of the Child Behavior Checklist (CBCL), Conners' abbreviated parent/teacher rating scale, the Childhood Autism Rating Scale, and a speech developmental test were administered. The participants were divided into two groups: early walkers (group A) and late walkers (group B). RESULTS: The full-scale intelligence quotient (IQ) and performance IQ were significantly lower in group B than in group A, while the verbal IQ did not differ significantly between the groups. The children in group B had greater risks of cognitive deficits than did the children in group A, especially in performance skills. The social quotient (SQ) was significantly lower in group B than in group A (p<0.05). The rates of mild or significant deficits based on SQ and the CBCL did not differ significantly between the groups. Four children in group A and one child in group B had attention/hyperactivity problems. One child in group A had autistic behavior. Only one child in group B showed a significant speech developmental delay. CONCLUSIONS: Problems in cognition, social adaptive functioning, and emotional and behavioral development can occur in children without major NDI early in life. Late walkers had significantly lower scores in cognition and social adaptive functioning than did early walkers.
Age of Onset ; Attention Deficit Disorder with Hyperactivity ; Autistic Disorder ; Checklist ; Child Behavior ; Child Development ; Child* ; Cognition ; Humans ; Intelligence ; Neuropsychological Tests ; Premature Birth* ; Walkers ; Walking ; Weights and Measures

PURPOSE: To report the initial clinical outcomes of the newly devised sliding loop technique (SLT) used for renorrhaphy in patients who underwent robot-assisted laparoscopic partial nephrectomy (RALPN) for small renal mass. MATERIALS AND METHODS: We reviewed the surgical videos and medical charts of 31 patients who had undergone RALPN with the SLT renorrhaphy performed by two surgeons (CWJ and CK) between January 2014 and October 2014. SLT renorrhaphy was performed after tumor excision and renal parenchymal defect repair. Assessed outcomes included renorrhaphy time (RT), warm ischemic time, perioperative complications, and perioperative renal function change. RT was defined as interval from the end of bed suture to the renal artery declamping. RESULTS: In all patients, sliding loop renorrhaphy was successfully conducted without conversions to radical nephrectomy or open approaches. Mean renorrhaphy and warm ischemic time were 9.0 and 22.6 minutes, respectively. After completing renorrhaphy, there were no adverse events such as dehiscence of approximated renal parenchyma, renal parenchymal tearing, or significant bleeding. Furthermore, no postoperative complications or significant renal function decline were observed as of the last follow-up for all patients. The limitations of this study include the small volume case series, the retrospective nature of the study, and the heterogeneity of surgeons. CONCLUSIONS: From our initial clinical experience, SLT may be an efficient and safe renorrhaphy method in real clinical practice. Further large scale, prospective, long-term follow-up, and direct comparative studies with other techniques are required to confirm the clinical applicability of SLT.
Adult ; Aged ; Female ; Hemostasis, Surgical/methods ; Humans ; Kidney Neoplasms/*surgery ; Laparoscopy/methods ; Male ; Middle Aged ; Nephrectomy/*methods ; Patient Positioning/methods ; Robotic Surgical Procedures/*methods ; *Suture Techniques ; Treatment Outcome

The present study was aimed to investigate the effects of MB12662, a synthetic dunnione compound, on cisplatin-induced vomiting reflexes and intestinal, renal, immune system, and hematopoietic toxicities in ferrets and mice, respectively. Male ICR mice were orally administered MB12662 (5, 10, 25 or 50 mg/kg) for 10 days, during which intraperitoneally challenged with cisplatin (3.5 mg/kg) from day 4 to 7, and sacrificed on day 10 for the pathological examination. Male ferrets were orally administered MB12662 (25, 50 or 100 mg/kg) for 7 days, subcutaneously challenged with cisplatin (5 mg/kg), and monitored for vomiting reflexes and survival of the animals. Four-day injection of cisplatin (3.5 mg/kg) to mice caused body weight loss and degeneration and atrophy of intestinal villi, reducing villi/crypt ratio to a half level of control animals. Cisplatin also induced renal and hepatic toxicities, and depletion of splenocytes and bone marrow progenitor cells. The systemic toxicities including decreased villi/crypt ratio, immune system atrophy, splenocyte depletion, and decreased cellularity in bone marrow were improved by MB12662. Cisplatin (5 mg/kg) induced retching and emetic responses of ferrets, which were remarkably attenuated by MB12662 in a dose-dependent manner. All the ferrets pretreated with MB12662 survived the challenge of cisplatin, in comparison with 40% mortality in vehicle-treated animals, and blood parameters of nephrotoxicity and hepatotoxicity were markedly recovered. It is expected that MB12662 could be a candidate for the body protection against burden, including emesis, of chemotherapeutic agents.
Animals ; Atrophy ; Body Weight ; Bone Marrow ; Cisplatin ; Ferrets ; Humans ; Immune System ; Male ; Mice ; Mice, Inbred ICR ; Mortality ; Reflex ; Stem Cells ; Vomiting*

PURPOSE: To investigate the characteristics of papillary thyroid carcinoma (PTC) with cystic changes visible on ultrasonography (US). METHODS: This study included 553 PTCs in 553 patients between January 2003 and August 2004. One radiologist with 10 years of experience in thyroid imaging retrospectively reviewed the preoperative US images. Two different groups were formed according to two different reference points (group 1, 25%; group 2, 50%) of the cystic component. Patients between the groups were compared according to their clinicopathologic characteristics. Disease-free survival (DFS) was estimated. Cox's multivariate proportional hazards regression model was used to identify the effect of variable factors on the recurrence risk. RESULTS: Fifty-six patients (10.1%) were confirmed to have tumor recurrence within the follow-up period. Thirty-five patients had regional metastasis, one had distant metastasis, eight had multiple site metastases, and 12 had biochemical recurrence. PTC patients with a < or = 50% or PTC patients with a < or = 25% cystic component did not have a statistically significant longer DFS than those with a >50% (hazard ratio [HR], 1.118; 95% confidence interval [CI], 0.255 to 4.910; P=0.883) or those with a >25% cystic component (HR, 0.569; 95% CI, 0.164 to 1.976; P=0.375), respectively. Moreover, independent predictors of recurrence were pathologic size, male gender, and lymph node metastasis, not a >50% or >25% cystic component. CONCLUSION: The proportion of the cystic component in PTCs did not affect DFS.
Disease-Free Survival ; Follow-Up Studies ; Humans ; Lymph Nodes ; Male ; Neoplasm Metastasis ; Prognosis* ; Recurrence ; Retrospective Studies ; Thyroid Gland ; Thyroid Neoplasms* ; Thyroid Nodule ; Ultrasonography*

Intestinal tuberculosis (TB) is presented with nonspecific and variable clinical manifestations such as abdominal pain, diarrhea, fever and weight loss. Diagnosis of tuberculous enteritis may be missed or confused with many other chronic gastrointestinal disorders such as the Crohn disease and intestinal neoplasms. The diagnosis should be based on careful clinical evaluations, such as extra-intestinal signs and colonoscopic and histologic findings. Newer techniques such as PCR tests from the specimens through colonoscopic biopsy may be helpful to confirm diagnosis of tuberculous enteritis. The treatment regimens for pulmonary tuberculosis are generally effective for tuberculous enteritis as well. If not treated early, the prognosis of intestinal tuberculosis is poor. We report a case of tuberculous enteritis diagnosed by colonoscopic biopsy and TB PCR which was presented with diarrhea, abdominal pain, intermittent fever and weight loss in a 12-year-old girl with active pulmonary tuberculosis. The patient was treated successfully with antituberculosis agents for 11 months without any complications.
Abdominal Pain ; Biopsy ; Child* ; Crohn Disease ; Diagnosis ; Diarrhea ; Enteritis* ; Female* ; Fever ; Humans ; Intestinal Neoplasms ; Polymerase Chain Reaction ; Prognosis ; Tuberculosis ; Tuberculosis, Pulmonary* ; Weight Loss