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[This corrects the article DOI: 10.3389/fmed.2023.1099840.].
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Introduction: Bartter syndrome (BS) is a rare salt-wasting tubulopathy caused by mutations in genes encoding sodium, potassium, or chloride transporters of the thick ascending limb of the loop of Henle and/or the distal convoluted tubule of the kidney. BS is characterized by polyuria, failure to thrive, hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Potassium and/or sodium supplements, potassium-sparing diuretics, and nonsteroidal anti-inflammatory drugs can be used to treat BS. While its symptoms and initial management are relatively well known, long-term outcomes and treatments are scarce. Methods: We retrospectively reviewed 54 Korean patients who were clinically or genetically diagnosed with BS from seven centers in Korea. Results: All patients included in this study were clinically or genetically diagnosed with BS at a median age of 5 (range, 0-271) months, and their median follow-up was 8 (range, 0.5-27) years. Genetic diagnosis of BS was confirmed in 39 patients: 4 had SLC12A1 gene mutations, 1 had KCNJ1 gene mutations, 33 had CLCNKB gene mutations, and 1 had BSND mutation. Potassium chloride supplements and potassium-sparing diuretics were administered in 94% and 68% of patients, respectively. The mean dosage of potassium chloride supplements was 5.0 and 2.1 mEq/day/kg for patients younger and older than 18 years, respectively. Nephrocalcinosis was a common finding of BS, and it also improved with age in some patients. At the last follow-up of 8 years after the initial diagnosis, 41% had short stature (height less than 3rd percentile) and impaired kidney function was observed in six patients [chronic kidney disease (CKD) G3, n = 4; CKD G5, n = 2]. Conclusion: BS patients require a large amount of potassium supplementation along with potassium-sparing agents throughout their lives, but tend to improve with age. Despite management, a significant portion of this population exhibited growth impairment, while 11% developed CKD G3-G5.
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BACKGROUND: The clinical features of pediatric rhabdomyolysis differ from those of the adults with rhabdomyolysis; however, multicenter studies are lacking. This study aimed to investigate the characteristics of pediatric rhabdomyolysis and reveal the risk factors for acute kidney injury (AKI) in such cases. METHODS: This retrospective study analyzed the medical records of children and adolescents diagnosed with rhabdomyolysis at 23 hospitals in South Korea between January 2007 and December 2016. RESULTS: Among 880 patients, those aged 3 to 5 years old composed the largest subgroup (19.4%), and all age subgroups were predominantly male. The incidence of AKI was 11.3%. Neurological disorders (53.6%) and infection (39.0%) were the most common underlying disorder and cause of rhabdomyolysis, respectively. The median age at diagnosis in the AKI subgroup was older than that in the non-AKI subgroup (12.2 years vs. 8.0 years). There were no significant differences in body mass index, myalgia, dark-colored urine, or the number of causal factors between the two AKI-status subgroups. The multivariate logistic regression model indicated that the following factors were independently associated with AKI: multiorgan failure, presence of an underlying disorder, strong positive urine occult blood, increased aspartate aminotransferase and uric acid levels, and reduced calcium levels. CONCLUSIONS: Our study revealed characteristic clinical and laboratory features of rhabdomyolysis in a Korean pediatric population and highlighted the risk factors for AKI in these cases. Our findings will contribute to a greater understanding of pediatric rhabdomyolysis and may enable early intervention against rhabdomyolysis-induced AKI.
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Background: Infectious disease outbreaks such as COVID-19 and MERS pose a major threat to healthcare workers' (HCWs) physical and mental health. Studies exploring the positive changes gained from adapting to traumatic events, known as post-traumatic growth (PTG), have attracted much attention. However, it is unclear which factors or experiences lead to PTG among HCWs. The purpose of this mixed-method study was to investigate factors associated with PTG among HCWs who experienced the MERS outbreak in South Korea, and fully describe their experience of developing PTG. Methods: Quantitative data from 78 participants were collected using psychometric tools for Psychological distress, Resilience, and Support for coping, and Post-traumatic growth. Qualitative interviews were conducted with seven nurses. Data were analyzed using the qualitative content analysis method according to the sub-themes of resilience, which was the main factor associated with PTG. Results: We found resilience to have a significant impact on PTG (ß =0.486, p = 0.001). Thus the qualitative interviews were analyzed using the core concepts of resilience. Qualitative interviews with nurses illustrated how participants experienced the development of resilience in terms of its sub-factors: hardiness, persistence, optimism, and support. Conclusion: HCWs who endured the MERS outbreak showed high levels of PTG, and the analysis of the interview data provided a fuller understanding on the experience of remaining resilient and developing PTG. These results provide practical and pragmatic information helpful for developing intervention strategies and protocols that can help HCWs transform adversity into growth and development.
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BACKGROUND: Children with nephrotic syndrome (NS) are at an increased risk of acute kidney injury (AKI) and the incidence of AKI in this population is reportedly increasing. This study aimed to investigate the incidence, clinical profiles, and risk factors of AKI in hospitalized children with NS through a nationwide study. METHODS: This retrospective multicenter study included 14 pediatric nephrology centers in Korea. From 2013 to 2017, a total of 814 patients with idiopathic NS were cared for at participating centers. Among them, 363 patients were hospitalized for NS and investigated in this study. RESULTS: A total of 363 children with NS were hospitalized 574 times. AKI occurred in 93 admissions (16.2%) of 89 patients: 30 (32.3%) stage 1; 24 (25.8%) stage 2; and 39 (41.9%) stage 3. Multivariate logistic regression analysis showed that longer disease duration, lower albumin level, and methylprednisolone pulse treatment were significantly associated with AKI development in hospitalized children with NS. AKI was associated with a longer hospital stay than non-AKI (median 10 vs. 7 days, P = 0.001). Among 93 admissions, 85 (91.4%) episodes recovered from AKI without complication, whereas 6 (6.5%) progressed to advanced chronic kidney disease (CKD). CONCLUSIONS: AKI is not uncommon in hospitalized children with NS, and its incidence in this nationwide study was 16.2%. Risk factors for AKI in hospitalized children with NS include longer disease duration, lower albumin level, and methylprednisolone pulse therapy. Pediatric NS patients with these characteristics should be under more strict scrutiny for the occurrence of AKI. Graphical abstract.
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Acute Kidney Injury , Nephrotic Syndrome , Acute Kidney Injury/epidemiology , Acute Kidney Injury/etiology , Albumins , Child , Child, Hospitalized , Humans , Incidence , Methylprednisolone , Nephrotic Syndrome/complications , Nephrotic Syndrome/drug therapy , Nephrotic Syndrome/epidemiology , Retrospective Studies , Risk FactorsABSTRACT
BACKGROUND: Although various forms of online education are on the rise worldwide, effects of such innovative approach are yet to be validated. This study analyzes whether blended learning cardiopulmonary resuscitation (CPR) education that integrates e-learning and face-to-face education is effective in improving nursing students' knowledge, attitude, and self-efficacy. METHODS: A randomized controlled design was used. The participants of this study were 120 nursing students randomly assigned to the intervention group (n = 60) or the control (n = 60). The intervention group was trained using a blended learning CPR education program. Self report questionnaires with knoweldge, attitude, and self-efficacy were all used in the pre and post intervention. Differences before and after the education of each group were analyzed with a paired t-test, and the differences between the two groups were analyzed with ANCOVA with knowledge as the covariate. RESULTS: The findings indicated that the intervention group had significantly higher knowledge scores (intervention: 16.40 ± 1.56, control: 6.46 ± 2, p < .001), and emotional attitude (intervention: 40.85 ± 8.01, control: 36.05 ± 6.87, p = .002) about CPR than the control group, but other outcomes did not differ between groups. CONCLUSIONS: In this monocentric study, a blended learning CPR program that integrated videos and face to face lecture was found effective in improving nursing students' knowledge and attitudes regarding CPR.
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Cardiopulmonary Resuscitation/education , Health Knowledge, Attitudes, Practice , Self Efficacy , Students, Nursing/psychology , Attitude of Health Personnel , Cardiopulmonary Resuscitation/nursing , Education, Distance , Educational Measurement , Female , Humans , Learning , Male , Students, Nursing/statistics & numerical data , Surveys and Questionnaires , Young AdultABSTRACT
BACKGROUND: Yersinia pseudotuberculosis is known to cause fever, gastroenteritis, or acute kidney injury (AKI). There have been several Y. pseudotuberculosis infection outbreaks to date associated with ingestion of contaminated food or unsterile water. While this disease was considered to have practically been eradicated with the improvement in public health, we encountered several cases of AKI associated with Yersinia infection. METHODS: We retrospectively collected data from medical records of patients with suspected Y. pseudotuberculosis infection who visited Seoul National University Children's Hospital in 2017. RESULTS: There were nine suspected cases of Yersinia infection (six males and three females; age range 2.99-12.18 years). Among them, five cases occurred in May, and seven patients were residing in the metropolitan Seoul area. Three patients had history of drinking mountain water. Every patient first presented with fever for a median of 13 days, followed by gastrointestinal symptoms and oliguria. Imaging studies revealed mesenteric lymphadenitis, terminal ileum wall thickening, and increased renal parenchymal echogenicity. Creatinine levels increased to 5.72 ± 2.18 mg/dL. Urinalysis revealed sterile pyuria, proteinuria, and glycosuria. Oliguria continued for 4 to 17 days, and two patients required dialysis; however, all of them recovered from AKI. Mucocutaneous manifestations developed later. In the diagnostic work-up, Yersinia was isolated from the stool culture in one patient. Anti-Yersinia immunoglobulin (Ig) A and IgG were positive in 6 patients. CONCLUSION: Y. pseudotuberculosis infection is an infrequent cause of interstitial nephritis presenting with AKI. When a patient presents with fever, gastroenteritis, and AKI not resolving despite hydration, the clinician should suspect Y. pseudotuberculosis infection.
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BACKGROUND: Extended-spectrum-beta-lactamase (ESBL)-producing bacteria are an increasingly important cause of urinary tract infections (UTIs) worldwide. We evaluated clinical characteristics and associated risk factors of UTIs in young children according to ESBL-producing status and relapse rates. METHODS: All urinary culture results in patients younger than 2 years old were assessed, and only children with febrile UTIs from gram-negative bacterial infections were reviewed. RESULTS: Of 845 episodes evaluated, 146 (17.3%) were caused by ESBL-positive bacteria. Significant differences were observed in previous UTIs, use of antibiotics or history of hospitalization within previous 3 months, and underlying urinary abnormalities between the ESBL UTI and non-ESBL UTI groups. After 2 weeks of treatment completion, UTI relapse occurred in 2.7% of children in the ESBL group and 1.1% of children in the non-ESBL group (P = 0.13). In the ESBL UTI group, relapse rate was not significantly different between patients treated with susceptible antibiotics and those treated with non-susceptible but clinically effective antibiotics. CONCLUSIONS: Previous history of UTI, antibiotic treatment, or hospitalization within previous 3 months and underlying disease are risk factors for ESBL UTI in children under 24 months of age. However, relapse rate was < 3% regardless of in vitro susceptibility of the treating antibiotics, as long as the antibiotics were clinically effective. We cautiously propose that we may continue the use of initial empirical antibiotics when a definite clinical response is observed, although further study is necessary to confirm the findings of this study.
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Anti-Bacterial Agents/therapeutic use , Gram-Negative Bacteria/isolation & purification , Gram-Negative Bacterial Infections/drug therapy , Urinary Tract Infections/drug therapy , Anti-Bacterial Agents/pharmacology , Female , Gram-Negative Bacteria/drug effects , Gram-Negative Bacteria/metabolism , Gram-Negative Bacterial Infections/epidemiology , Gram-Negative Bacterial Infections/microbiology , Hospitalization/statistics & numerical data , Humans , Infant , Male , Microbial Sensitivity Tests , Recurrence , Retrospective Studies , Risk Factors , Treatment Outcome , Urinary Tract Infections/epidemiology , Urinary Tract Infections/microbiology , beta-Lactamases/metabolismABSTRACT
OBJECTIVES: Inflammation is a major mechanism underlying coronary heart disease (CHD) and C-reactive protein (CRP) is a marker of inflammation. When administered soon after menopause, menopausal hormone therapy (MHT) prevents CHD. This study was conducted to examine the impact of estrogen by administration route on CRP in postmenopausal Korean women using micronized progesterone (MP4) for endometrial protection. METHODS: This retrospective cohort study included 129 healthy women without CHD risk factors. Eighty-nine women took oral estrogen (conjugated equine estrogen, 0.625 mg/day or equivalent), and 40 women applied a 1.5-mg/day 0.1% percutaneous estradiol gel. MP4 was added in 82 women with an intact uterus. The CRP level was measured at baseline and three and six months after initiation of MHT. RESULTS: The baseline characteristics were comparable between the MHT groups except current age and age at menopause. After controlling for age, menopausal age, body mass index, and basal CRP, no significant change in CRP was observed in the oral estrogen group (n = 29). Follow-up CRP levels were also similar to the baseline in the percutaneous estrogen group (n = 18). However, three-month CRP was significantly lower than six-month CRP, and there was a significant time trend within the percutaneous estrogen group. However, the group difference did not reach statistical significance. CRP also did not differ by addition of MP4 in either group. CONCLUSIONS: In postmenopausal Korean women, no change in CRP was observed with oral estrogen, while percutaneous estrogen might decrease CRP. The estrogenic impacts were not influenced by adding MP4.
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OBJECTIVES: This study aimed to develop and validate a tool that assesses the perceived neighborhood environments influencing obesity development among rural adults in Korea. DESIGN AND SAMPLES: Qualitative and quantitative methods were used. Twenty-one adults participated in focus group interviews. Subsequently, two independent surveys were conducted with rural adults aged 19-65. MEASUREMENTS: Literature review and focus group interviews were used to generate initial items. An expert's panel evaluation established content validity for these items and pilot testing of the draft tool was performed. Explanatory (n = 328) and confirmatory factor analyses (n = 1,070) were used to establish construct validity, and internal consistency and test-retest reliability were calculated (n = 88). RESULTS: The new tool consisting of 37 items was developed and validated. Confirmatory factor analysis revealed an eight-subscale structure (χ2 = 3,738.1, GFI = 0.831, SRMR = 0.060, RMSEA = 0.070). The tool showed moderate test-retest reliability (ICC = 0.519-0.775) and good internal consistency except for Social Influence on Healthy Eating (Cronbach's α = 0.612). CONCLUSIONS: The Rural Neighborhood Environment Assessment for Obesity tool might be a valid and reliable instrument for public health practitioners to assess complex social and physical environmental factors related to obesity.
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Obesity/diagnosis , Surveys and Questionnaires , Adult , Aged , Environment , Factor Analysis, Statistical , Female , Focus Groups , Humans , Male , Middle Aged , Psychometrics/methods , Reproducibility of Results , Republic of Korea , Young AdultABSTRACT
A retrospective review was performed to assess the risk factors and outcomes of BK virus infection and nephropathy (BKVN), an early complication in pediatric kidney allograft recipients. The study investigated the incidence, risk factors, and clinical outcomes of BK viremia and BKVN in a Korean population of pediatric patients who received renal transplantation from 2001-2015 at the Seoul National University Hospital. BKVN was defined as biopsy-proven BKVN or plasma BK viral loads >10,000 copies/mL for >3 weeks. BK viremia was defined as a BK viral load >100 copies/mL in blood. Among 168 patients assessed for BK virus status, 30 patients (17.9%) tested positive for BK viremia at a median of 12.6 months after transplantation. BKVN was diagnosed in six patients (3.6%) at a median of 13.4 months after transplantation. Three of the six BKVN patients had Alport syndrome (p = 0.003), despite this disease comprising only 6% of the study population. Every patient with BK viremia and Alport syndrome developed BKVN, while only 11.1% of patients with BK viremia progressed to BKVN in the absence of Alport syndrome. Multivariate analysis revealed that Alport syndrome was associated with BKVN development (hazard ratio 13.2, p = 0.002). BKVN treatment included the reduction of immunosuppression, leflunomide, and intravenous immunoglobulin. No allografts were lost in the two years following the diagnosis of BKVN. In summary, the incidence of BKVN in pediatric kidney allograft recipients was similar to findings in previous reports, but was higher in patients with underlying Alport syndrome.
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BACKGROUND/AIMS: Additional validation study was warranted to confirm the clinical significance of C score, which was recently added to the Oxford classification for immunoglobulin A nephropathy (IgAN). METHODS: We performed a multicenter retrospective cohort study in four hospitals in Korea. Patients who had biopsied glomeruli less than eight or inadequate follow-up information were excluded. Clinicopathologic parameters, including the degree of cellular or fibrocellular crescents, were collected and included in multivariable models for Cox regression analysis. The main outcome was a composite renal outcome, defined as a merge of progression to end-stage renal disease (ESRD) and halving of estimated glomerular filtration rate (eGFR) from baseline. RESULTS: Among included 3,380 biopsy-confirmed IgAN patients, there were 664 (19.6%) patients with C1 and 60 (1.8%) patients with C2 scores in the study population. Although C0 and C1 patients shared similar baseline characteristics, C2 patients frequently had more clinicopathologic risk factors for poor prognosis of IgAN. Both C1 [adjusted HR 1.33 (1.11-1.58), P=0.002] and C2 [adjusted HR 2.24 (1.46-3.43), P< 0.001] scores were associated with an increased risk of the composite outcome. C2 was a strong predictive parameter associated with both progression to ESRD and halving of eGFR, whereas C1 was mainly associated with the increased risk of halving of eGFR. Notably, the proportion of crescent showed a linear association with the risk of adverse renal outcome. CONCLUSION: The C score in the Oxford classification is a valid predictive parameter for IgAN prognosis. Additional clinical attention is necessary for IgAN patients with identified cellular or fibrocellular crescents.
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Glomerulonephritis, IGA/diagnosis , Adult , Cell Shape , Cohort Studies , Disease Progression , Female , Glomerular Filtration Rate , Glomerulonephritis, IGA/classification , Glomerulonephritis, IGA/pathology , Humans , Male , Middle Aged , Predictive Value of Tests , Prognosis , Republic of Korea , Retrospective Studies , Young AdultABSTRACT
The most common type of refractory hypertension found in children is secondary hypertension, which is a potentially curable disease. Reninoma, a renin-secreting juxtaglomerular cell tumor, is a rare cause of severe hypertension that is usually diagnosed in adolescents and young adults. Surgical resection of the tumor completely cures the hypertension of patients with reninoma. The typical clinical presentation of reninoma includes hypokalemia, metabolic alkalosis, and features secondary to the increased activation of the renin-angiotensin system without renal artery stenosis. We report a case of reninoma in a female adolescent with a typical clinical presentation, in which surgical removal of the tumor completely cured hypertension. We discuss here the clinical features, imaging studies, and immunohistochemical examination of the tumor used to establish the diagnosis of reninoma and for the management of the condition.
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[This corrects the article on p. 16 in vol. 9, PMID: 29503801.].
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Recent molecular genetic studies have revealed that Schimmelpenning-Feuerstein-Mims syndrome (SFMS), which presents as sebaceous nevi, is a mosaic RASopathy caused by postzygotic somatic activating mutations in HRAS, NRAS, or KRAS Some patients with SFMS also have hypophosphatemic rickets, called cutaneous skeletal hypophosphatemia syndrome (CSHS). We here report a pediatric case of biopsy-proven CSHS with mosaic mutation in the HRAS gene. A girl who showed extensive nevus sebaceous since birth had suffered progressive lower extremity deformity since the age of 5 years. We found hypophosphatemic rickets in laboratory and radiological studies. From the molecular study with skin tissue with nevus sebaceous, we identified a heterozygous mutation, c.182A>G (p.Gln61Arg), in exon 3 of HRAS by Sanger sequencing. However, we did not find this mutation in the peripheral blood and unaffected tissue, which demonstrated mosaic distribution of the mutation throughout the body. Given the rarity of the previous genetically proven CSHS cases, accumulation of more cases is needed to establish the role of Ras activation in skeletal manifestations in CSHS, which is likely due to excessive production of fibroblast growth factor 23.
Subject(s)
Mosaicism , Mutation , Nevus, Sebaceous of Jadassohn/genetics , Proto-Oncogene Proteins p21(ras)/genetics , Rickets, Hypophosphatemic/genetics , Adolescent , Female , Fibroblast Growth Factor-23 , Fibroblast Growth Factors/biosynthesis , HumansABSTRACT
BACKGROUND: Multicentric carpotarsal osteolysis syndrome (MCTO) is characterized by progressive destruction and disappearance of the carpal and tarsal bones associated with nephropathy. MCTO is caused by loss-of-function mutations in the MAF bZIP transcription factor B (MAFB) gene. CASE PRESENTATION: This report describes three unrelated patients with MAFB mutations, including two male and one female patient. Osteolytic lesions in the carpal and tarsal bones were detected at 2 years, 12 years, and 14 months of age, respectively. Associated proteinuria was noted at 4 years, 12 years, and 3 months of age, respectively. Kidney biopsy was performed in two of them and revealed focal segmental glomerulosclerosis (FSGS). One patient showed progression to end-stage renal disease, that is by 1 year after the detection of proteinuria. The second patient had persistent proteinuria but maintained normal renal function. In the third patient, who did not undergo a kidney biopsy, the proteinuria disappeared spontaneously. The bony lesions worsened progressively in all three patients. Mutational study of MAFB revealed three different mutations, two novel mutations [c.183C > A (p.Ser61Arg) and c.211C > G (p.Pro71Ala)] and one known mutation [c.212C > T (p.Pro71Leu)]. CONCLUSION: We report three cases with MCTO and two novel MAFB mutations. The renal phenotypes were different among the three patients, whereas progressive worsening of the bony lesions was common in all patients. We also confirmed FSGS to be an early renal pathologic finding in two cases. A diagnosis of MCTO should be considered in patients with progressive bone loss concentrated primarily in the carpal and tarsal bones and kidney involvement, such as proteinuria.
Subject(s)
Glomerulosclerosis, Focal Segmental/genetics , Loss of Function Mutation , MafB Transcription Factor/genetics , Osteolysis/genetics , Proteinuria/genetics , Adolescent , Base Sequence , Carpal Bones/metabolism , Carpal Bones/pathology , Child, Preschool , DNA Mutational Analysis , Disease Progression , Female , Gene Expression , Glomerulosclerosis, Focal Segmental/complications , Glomerulosclerosis, Focal Segmental/metabolism , Glomerulosclerosis, Focal Segmental/pathology , Humans , Kidney/metabolism , Kidney/pathology , MafB Transcription Factor/metabolism , Male , Osteolysis/complications , Osteolysis/metabolism , Osteolysis/pathology , Proteinuria/complications , Proteinuria/metabolism , Proteinuria/pathology , Tarsal Bones/metabolism , Tarsal Bones/pathology , Young AdultABSTRACT
BACKGROUND: Galloway-Mowat syndrome (GAMOS) is a rare hereditary renal-neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently, novel causative mutations for this disease have been identified in the genes encoding the four KEOPS subunits: OSGEP, TP53RK, TPRKB, and LAGE3. CASE PRESENTATION: We detected a novel homozygous TP53RK mutation (NM_033550, c.194A > T, p.Lys65Met) using whole exome sequencing in a familial case of GAMOS with three affected siblings. All three patients manifested similar phenotypes, including very early-onset nephrotic syndrome (8 days, 1 day, and 1 day after birth, respectively), microcephaly, dysmorphic faces, and early fatality (10 months, 21 days, and 25 days of age, respectively). One patient also showed hiatal hernia with gastric volvulus. Renal biopsy performed on one patient revealed focal segmental glomerulosclerosis with severe tubulo-interstitial changes. CONCLUSION: We report on a familial case of GAMOS with three affected siblings carrying a novel homozygous TP53RK mutation. To our knowledge, this is only the second report on GAMOS in association with a TP53RK mutation.
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Hernia, Hiatal/genetics , Intracellular Signaling Peptides and Proteins/genetics , Microcephaly/genetics , Mutation/genetics , Nephrosis/genetics , Protein Serine-Threonine Kinases/genetics , Female , Homozygote , Humans , Infant , Infant, Newborn , Kidney/metabolism , Kidney Diseases/genetics , Male , Nephrotic Syndrome/genetics , PhenotypeABSTRACT
BACKGROUND/AIMS: Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: SLC4A1, ATP6V1B1, and ATP6V0A4. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. METHODS: A total of 17 children with dRTA were enrolled in the study. All patients underwent genetic testing for all three candidate genes. RESULTS: Pathogenic mutations, including six novel mutations, were detected in 15 (88.2%) patients: dominant SLC4A1 mutations in ten (58.8%) patients, recessive ATP6V0A4 mutations in three (17.6%) patients, and recessive ATP6V1B1 mutations in two (11.8%) patients. Compared to other patients, patients with SLC4A1 mutations showed an older age of onset (3.7 ± 2.6 years) and less severe metabolic acidosis at initial presentation. All patients developed nephrocalcinosis, and sensorineural hearing loss was observed in two patients with ATP6V1B1 mutations. Three (17.6%) patients had decreased renal function (chronic kidney disease stage 2), and five (29.4%) patients had persistent growth retardation at the last follow-up. Long-term prognosis showed no genotype-phenotype correlation. CONCLUSIONS: SLC4A1 is the most common defective gene in Korean children with dRTA. Patients with SLC4A1 mutations show later onset and milder disease severity. Long-term follow-up of hearing ability, renal function, and growth is necessary for patients with dRTA.
Subject(s)
Acidosis, Renal Tubular/genetics , Anion Exchange Protein 1, Erythrocyte/genetics , Genetic Association Studies , Acidosis, Renal Tubular/pathology , Adolescent , Child , Child, Preschool , DNA Mutational Analysis , Female , Growth/genetics , Hearing Loss, Sensorineural/genetics , Humans , Kidney Tubules, Distal/pathology , Male , Mutation , Nephrocalcinosis/genetics , Republic of Korea , Vacuolar Proton-Translocating ATPases/geneticsABSTRACT
Objective The aim of this study was to investigate the relationship between working environment and weight control efforts among obese workers in Korea. Methods This study was based on the 2011 3rd Korean Working Conditions Survey, which was conducted on workers aged 15 years or older. A sample of 484 obese workers was included in the study. Multivariable logistic regression analysis was used to investigate the relationship between working environment and weight control efforts after controlling for individual variables. Adjusted odds ratios (ORs) and 95% confidence intervals were calculated. Results Of the participants, 63.4% reported that they made efforts to control their weight. After controlling for personal factors, the OR of weight control efforts for individuals working 40-49 hours per week was 2.4 times that for individuals working 60 hours or more per week. The OR of regular employment workers was 2.2 times that of non-regular workers. Conclusion We established that working hours and employment type were significantly related to weight control efforts. Therefore, we recommend that working conditions should be considered in designing effective workplace health promotion programs.
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Body Weight , Obesity Management , Obesity/therapy , Personnel Staffing and Scheduling , Workplace , Adolescent , Adult , Employment , Female , Humans , Male , Middle Aged , Obesity/prevention & control , Republic of Korea , Time Factors , Workload , Young AdultABSTRACT
OBJECTIVES: This study investigates investigated the relationship between social and physical environments, and moderate to vigorous physical activity (MVPA) amongst adults in both rural and urban areas within Korea. METHODS: A sample of 128,735 adults from the 2013 Community Health Survey (CHS) was analyzed using a multilevel logistic analysis. RESULTS: Urban residents with higher satisfaction in public transportation satisfaction and rural residents with more access to sports parks, hiking trails, and bike cycle paths were more likely to be active. The MVPA of adults from rural areas correlated urban adults was uncorrelatedwith neighborhood factors, but that of rural adults was whereas no correlations were observed in adults from urban areas. CONCLUSION: These differences should be considered when developing interventions strategies to enhance adult physical activity in different communities.