Systemic lupus erythematosus (SLE) is characterized by various symptoms and multi-organ involvement. Hypophosphatemia has been described in several diseases accompanied with systemic inflammation. However, hypophosphatemia has rarely been described in SLE patients, especially in those without nephritis. We report the case of a 13-year-old girl with SLE who developed hypophosphatemia without renal involvement. Her hypophosphatemia was caused by renal loss of phosphorus and persisted for 7 months. It improved as her complement levels increased. Therefore, hypophosphatemia may be related to disease activity in SLE patients.
Atopic disease is caused by a complex combination of environmental factors and genetic factors, and studies on influence of exposure to various environmental factors on atopic diseases are continuously reported. However, the exact cause of atopic dermatitis is not yet known. Our study was conducted to analyse the association of SNPs with the development of atopic disease in a small cohort. Samples were collected from the Mothers' and Children's Environmental Health (MOCEH) study and 192 cord blood DNA samples were used to identify incidence of atopy due to influence of exposure to environmental factors. Genetic elements were analysed using a precision medicine research (PMR) array designed with various SNPs for personalized medicine. Case-control analysis of atopy disease revealed 253 significant variants (p<0.0001) and SNPs on five genes (CARD11, ZNF365, KIF3A, DMRTA1, and SFMBT1) were variants identified in previous atopic studies. These results are important to confirm the genetic mutation that may lead to the onset of foetal atopy due to maternal exposure to harmful environmental factors. Our results also suggest that a small-scale genome-wide association analysis is beneficial to confirm specific variants as direct factors in the development of atopy.
Gazi, Md. Amran;Mahmud, Sultan;Fahim, Shah Mohammad;Kibria, Mohammad Golam;Palit, Parag;Islam, Md. Rezaul;Rashid, Humaira;Das, Subhasish;Mahfuz, Mustafa;Ahmeed, Tahmeed
Genomics & Informatics
/
v.16
no.4
/
pp.26.1-26.12
/
2018
Shigella spp. constitutes some of the key pathogens responsible for the global burden of diarrhoeal disease. With over 164 million reported cases per annum, shigellosis accounts for 1.1 million deaths each year. Majority of these cases occur among the children of the developing nations and the emergence of multi-drug resistance Shigella strains in clinical isolates demands the development of better/new drugs against this pathogen. The genome of Shigella flexneri was extensively analyzed and found 4,362 proteins among which the functions of 674 proteins, termed as hypothetical proteins (HPs) had not been previously elucidated. Amino acid sequences of all these 674 HPs were studied and the functions of a total of 39 HPs have been assigned with high level of confidence. Here we have utilized a combination of the latest versions of databases to assign the precise function of HPs for which no experimental information is available. These HPs were found to belong to various classes of proteins such as enzymes, binding proteins, signal transducers, lipoprotein, transporters, virulence and other proteins. Evaluation of the performance of the various computational tools conducted using receiver operating characteristic curve analysis and a resoundingly high average accuracy of 93.6% were obtained. Our comprehensive analysis will help to gain greater understanding for the development of many novel potential therapeutic interventions to defeat Shigella infection.
Valve replacements in 82 children, aging up to 15 years[mean 11.67 years] were done at Seoul National University Hospital during 13 years period from 1974 to 1986. The patients were composed of 5] males and 31 females and 50 patients had acquired heart disease and 32 patients congenital heart disease. 75 patients received single valve replacements, 6 patients double valve replacements, 1 patient triple valve replacement, and among all of them, 11 patients redo-replacements. The bioprosthetic valves have been applied to 58 patients and prosthetic valve to 24 patients and the latter was the main artificial valve since 1984. Among the 69 patients who had definite post-operative records, the overall mortality was 27.5%[20.3% was early mortality and 7.2% late mortality] and the overall mortality was lowered to 4.3% since 1984. There were early post-operative complication rate of 26.1% and late complication rate 34.8%, and among the latter, the valve failure rate was 11.4% patient-year, and the thrombo-embolism rate 1.76%/patient-year. 55 patients among the survivals after post-operative 1 month, were received follow-up with various anticoagulating medication for total 2046 patient-months[mini-mum 1 month to maximum 90 month, mean 37.2*25.44 months] and actuarial survival rate was 82*8% at 5 years and valve failure free and thrombo-embolic free survival rate were 61*8% and 90*3% respectively. And among them, valve failure free survival `rate of tissue valve were 91*6% at post-operative 2 years, 78*3% at 3 years, 59*9% at 4 years, 54*10% at 5 years, 53*15% at 6 years, so markedly decreased at 3-5 years post-operatively. These results suggest that cardiac valve replacement in children have been effective therapeutic method though various problems are still remained, and the choice of valve should be prosthetic valve mainly due to its durability at the present.
Purpose: The purpose of this study was to identify the trends regarding diet and exercise intervention studies for Korean obese children between 2010 and 2017. Methods: This study was synthesized and reviewed systematically by meta-analysis. In addition, a total of thirty nine studies were investigated. The random effect model was used for meta-analysis. Results: Most studies used single interventions and that their theoretical frameworks still required improvement. In addition, on-line education programs still need to increase their number over that of off-line ones. Regarding the dependent variables for understandings the influences obesity may have on Korean children, most studies took advantage of biological indicators. In terms of the effects of obesity management programs, multiple interventions have gained a competitive edge over single ones for Korean obese children's diet and exercise. In a similar vein, healthy eating habits and adequate physical activities would have more positive effects on Korean children' obesity management programs. Conclusion: Further various studies will be needed for the early detection and prevention of obese children through varied interventions and qualitative improvement of studies.
The hemolytic uremic syndrome (HUS) is a rare disease of microangiopathic hemolytic anemia, low platelet count and renal impairment. HUS usually occurs in young children after hemorrhagic colitis by shigatoxin-producing enterohemorrhagic E. coli (D+HUS). HUS is the most common cause of acute renal failure in infants and young children, and is a substantial cause of acute mortality and morbidity; however, renal function recovers in most of them. About 10% of children with HUS do not reveal preceding diarrheal illness, and is referred to as D- HUS or atypical HUS. Atypical HUS comprises a heterogeneous group of thrombomicroangiopathy (TMA) triggered by non-enteric infection, virus, drug, malignancies, transplantation, and other underlying medical condition. Emerging data indicate dysregulation of alternative complement pathway in atypical HUS, and genetic analyses have identified mutations of several regulatory genes; i.e. the fluid phase complement regulator Factor H (CFH), the integral membrane regulator membrane cofactor protein (MCP; CD46) and the serine protease Factor I (IF). The uncontrolled activation of the complement alternative pathway results in the excessive consumption of C3. Plasma exchange or plasma infusion is recommended for treatment of, and has dropped the mortality rate. However, overall prognosis is poor, and many patients succumb to end-stage renal disease. Clinical presentations, response to plasma therapy, and outcome after renal transplantation are influenced by the genotype of the complement regulators. Thrombotic thrombocytopenic purpura (TTP), another type of TMA, occurs mainly in adults as an acquired disease accompanied by fever, neurologic deficits and renal abnormalities. However, less frequent cases of congenital or hereditary TTP associated with ADAMTS-13 (a disintegrin and metalloprotease, with thrombospondin 1-like domains 13) gene mutations have been reported, also. Recent advances in molecular genetics better allow various HUS to be distinguished on the basis of their pathogenesis. The genetic analysis of HUS is important in defining the underlying etiology, predicting the genotype-related outcome and optimizing the management of the patients.
Purpose: This study aimed to evaluate a possible association between the anti-tissue transglutaminase antibody (anti-tTG) titer and stage of duodenal mucosal damage and assess a possible cut-off value of anti-tTG at which celiac disease (CD) may be diagnosed in children in conjunction with clinical judgment. Methods: This observational study was conducted at a gastroenterology clinic in a tertiary hospital from April 2012 to May 2013. Seventy children between 6-months and 18-years-old with suspected CD underwent celiac serology and duodenal biopsy. Statistical analyses were done using SPSS 16. Diagnostic test values were determined for comparing the anti-tTG titer with duodenal biopsy. An analysis of variance and Tukey-Kramer tests were performed for comparing the means between groups. A receiver operating characteristics curve was plotted to determine various cut-off values of anti-tTG. Results: The mean antibody titer increased with severity of Marsh staging (p<0.001). An immunoglobulin (Ig) A-tTG value at 115 AU/mL had 76% sensitivity and 100% specificity with a 100% positive predictive value (PPV) and 17% negative predictive value (NPV) for diagnosis of CD (p<0.001, 95% confidence interval [CI], 0.75-1). Conclusion: There is an association between the anti-tTG titer and stage of duodenal mucosal injury in children with CD. An anti-tTG value of 115 AU/mL (6.4 times the upper normal limit) had 76% sensitivity, 100% specificity, with a 100% PPV, and 17% NPV for diagnosing CD (95% CI, 0.75-1). This cut-off may be used in combination with clinical judgment to diagnose CD.
Purpose: To assess the chronological changes of disease-related kyphosis after chemotherapy alone. Materials and Methods: A total of 101 children aged 2 to 15 years with spinal tuberculosis, accompanied by various stages of disease processes were enrolled for analysis. By utilizing the images in them, the growth plate condition and chronological changes of kyphosis after chemotherapy were analyzed at two points in time; the first assessment was at post-chemotherapy one-year and second at the final discharge. Results: Complete disc destruction in the cervical, dorsal and lumbosacral spines was observed in 2 out of 40 children (5.0%), 8 out of 30 children (26.7%), and 6 out of 31 children (19.4%), respectively. In those cases, the residual kyphosis inevitably developed. In the remaining children, the discs were intact or partially damaged. Among the 101 children kyphotic deformity was maintained without change in 20 children (19.8%). Kyphosis decreased in 14 children (13.9%), while it increased in 67 children (66.3%) with non-recoverably damaged growth plate. Conclusion: Although it is tentatively possible to predict the deformity progress or non-progress and spontaneous correction at the time of the initial treatment, its predictive accuracy is low. Therefore, assessment of the chronological changes should be performed at the end of chemotherapy. In children with progressive curve change, assessment of deformity should be continued until maturity.
This study was descriptive survey research. The main purpose of this study is to examine the daily activity of hospitalized children from two month years old to twelve years old and to identify needs or responses of mother who has hospitalized children. The subjects for the study were 179 mothers who have hospitalized children at pediatric ward two hospitals attached to a university in Seoul. The data was collected by two researchers and two assistants using structured open questionnaire for interview. The data was analyzed by using SPSS/PC. The results of the study were as follows ; 1. The daily activity of hospitalized children was mainly play activity except for treatment or nursing activity. It was limited activity at sickbed and various according to developmental stage of children. 2. The common responses of mothers on intravenous injection. blood sampling and fretful children were heartache. crying. empathy and guilty feeling. 3. The responses of mothers on disease progress were comfort. aspiration. anxiety. gloominess. critique and a serene state of mind. 4. The responses of mothers on medical personnel were kindness. carefulness. comfort. satisfaction. calmness and unkindness. 5. The responses of mothers on another hospitalized children were mainly empathy and sympathy. 6. The responses of mothers on patient clothes were comfort and deny. 7. The responses of mothers on residence with child were comfort. inevitable duty. laborious. exhaust. annoyance and worried about another family member. 8. The requirements of mothers were mainly convenience facility and play place. The results of this study indicate that hospital life were indifferent growth and development of children. Nurses need to identify hospitalized children and mothers have hospital adjustment problems and intervene as soon as possible to promote normal growth and development of theses children.
Purpose: We performed to reveal the association between the Helicobacter pylori infection and body weight among children. Methods: Out retrospective study included patients who underwent the H. pylori immunoglobulin G testing at Konyang University Hospital between March 2011 and June 2014. These patients were classified as seropositive (28 boys, 27 girls; mean age: $9.89{\pm}3.28years$) or seronegative (55 boys, 54 girls; mean age: $9.84{\pm}3.02years$). Next, we compared various characteristics between the seropositive and negative groups, as well as between obese children (body weight ${\geq}90th$ percentile) and non-obese children (body weight <90th percentile). Furthermore, we compared the change in body weight after 2 months of treatment with amoxicillin, clarithromycin and omeprazole among the 55 seropositive children (14 treated children and 41 non-treated children). Results: There were no differences in the weights and laboratory data for the 55 seropositive children and 109 seronegative children (weight; $40.96{\pm}18.11kg$ vs. $36.85{\pm}13.72kg$, respectively; p=0.14). And, there was no difference in the prevalence of H. pylori infection among the 29 obese and 135 non-obese children (p=0.581). However, after 2 months of eradication, the 14 treated patients exhibited a significant weight gain ($+0.91{\pm}0.52kg$), compared to the 41 non-treated patients ($-0.29{\pm}1.16kg$, p=0.025). Conclusion: Our findings present that obesity was not associated with the H. pylori infection, although H. pylori eradication led to significant increase in body weight.
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