scholarly journals The Frequent Adiponutrin (PNPLA3) Variant p.Ile148Met Is Associated with Early Liver Injury: Analysis of a German Pediatric Cohort

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Marcin Krawczyk ◽  
Roman Liebe ◽  
Ina B. Maier ◽  
Anna Janina Engstler ◽  
Frank Lammert ◽  
...  

Introduction.The common adiponutrin (PNPLA3) variant p.Ile148Met is associated with liver injury. Here, we investigate the association of this polymorphism with hepatic and metabolic traits in a pediatric cohort.Patients and Methods.The study cohort comprised 142 German children (age 5–9 years, 98 overweight, 19 children with NAFLD).Results.Overweight children presented with increased serum ALT (P=0.001) and GGT (P<0.001) activities. ALT activities differed significantly (P=0.02) between carriers of differentPNPLA3genotypes in the entire study cohort, in normal weight children (P=0.02) and in children younger than 7 years (P=0.02). Carriers of the prosteatoticPNPLA3genotype p.148Met/Met displayed higher ALT activities as compared to children with the frequent genotype p.148Ile/Ile (P=0.01). The BMI was however a stronger predictor of ALT activities compared to thePNPLA3genotype (P<0.001andP=0.06, resp.). The variant was associated with increased serum glucose levels (P=0.01) and HOMA index (P=0.02) in carriers of the p.148Ile/Met genotype but did not affect other metabolic traits or the presence of NAFLD.Discussion.The frequentPNPLA3variant p.Ile148Met is associated with serum ALT activities already at a young age.

2017 ◽  
Vol 68 (7) ◽  
pp. 1438-1441 ◽  
Author(s):  
Sorin Berbece ◽  
Dan Iliescu ◽  
Valeriu Ardeleanu ◽  
Alexandru Nicolau ◽  
Radu Cristian Jecan

Obesity represents a global health problem. According to the latest studies released by the World Health Organisation (WHO), 1.7 billion currently in excess of normal weight individuals, of which approx. 75% are overweight (body mass index - BMI 25 to 30). The common form of excess adipose tissue manifestation in overweight individuals is localized fat deposits with high (abdominal) or low (buttocks and thighs) disposition. Although the overweight can be corrected relatively easy by changing behavioral habits or food, a constant physical exercises program or following a diet food are not accessible to all through the efforts of will, financial and time involved. Several methods have been studied and tested over time to eliminate more or less invasive fat deposits with varying efficacy and adverse effects. Chemical lipolysis using phosphatidylcholine as the basic substance was initially used in hypercholesterolemia and its complications and was rapidly adopted in mesotherapy techniques for the treatment of fat deposits. This study reveals the results obtained using Dermastabilon on a sample of 16 patients, the time allocated to treatment and discomfort being minimal, and rapid and notable results. There were no side effects.


2014 ◽  
Vol 79 (1) ◽  
pp. 109-116 ◽  
Author(s):  
Fuminori Kawabata ◽  
Takafumi Mizushige ◽  
Keisuke Uozumi ◽  
Kohsuke Hayamizu ◽  
Li Han ◽  
...  

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Lu Xie ◽  
Jie Xu ◽  
Xiaowei Li ◽  
Zuli Zhou ◽  
Hongqing Zhuang ◽  
...  

Abstract Background Complete surgical remission (CSR) is the best predictor of overall survival (OS) for patients with metastatic osteosarcoma. However, metastasectomy has not been widely implemented in China in the last decade due to various factors, and instead, most physicians choose hypofractionated radiotherapy to treat pulmonary lesions. This study aimed to retrospectively evaluate the outcomes of different local treatments for pulmonary lesions and identify the best local therapy strategies for these patients. Methods We reviewed the clinical courses of osteosarcoma patients with pulmonary metastases who were initially treated in two sarcoma centres in Beijing, China, from June 1st, 2009, to March 26th, 2020. With a median follow-up of 32.4 (95% confidence interval (CI): 30.8, 36.1) months, a total of 127 patients with 605 pulmonary nodules, all of whom had received local therapy and firstly achieved CSR or complete radiated/metabolic remission (CRR), were included in the analysis. A total of 102 patients with 525 nodules were initially diagnosed with resectable lung metastases, while 25 patients had 80 indeterminate nodules at presentation and relapsed with pulmonary metastases within 6 months after the completion of adjuvant chemotherapy. Results Eighty-eight of 127 (69.3%) patients had fewer than 5 nodules at the time of local therapy, with 48 of 127 (37.8%) located in the unilateral pleura. No patient underwent thoracotomy, and 42 of 127 patients (85 nodules) received video-assisted thoracoscopic surgery (VATS). In addition, 79 of 127 patients (520 nodules) received hypofractionated stereotactic body radiotherapy (RT), such as Gamma Knife radiosurgery or CyberKnife radiosurgery. The twelve-month event-free survival (EFS) (from local therapy to progression) rate of this entire study cohort was 35.6% (95% CI: 26.8, 44.4%), without a significant difference between the two groups (44.7% for VATS vs. 28.4% for RT, P = 0.755). Radiation-induced pneumonitis was observed in 62 of 86 (72.1%) patients, with one patient (1/86, 1.2%) in grade 4. Conclusions Our past data showed a similar prognosis with the use of hypofractionated radiotherapy and VATS for the treatment of pulmonary metastasis and no inferiority to thoracotomy regarding historical outcomes. Currently, high-resolution chest computed tomography (CT) provides sufficient information on nodules, and less invasive modalities can thus be considered for treatment.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Muhammad Arif Asghar ◽  
Ahad Abdul Rehman ◽  
Muhammad Liaquat Raza ◽  
Yousra Shafiq ◽  
Muhammad Asif Asghar

Abstract Background The adherence pattern of antiepileptic drugs (AEDs) among patients with epilepsy is relatively lower in the United States and different European countries. However, adherence and cost analysis of AEDs in Asian countries have not been thoroughly studied. Therefore, the present study aimed to analyze the cost and adherence of AEDs and its associated factors in patients followed in Pakistan. Methods Data from prescriptions collected from patients with epilepsy who have visited the Outpatient Department (OPD) of different tertiary care hospitals at the cosmopolitan city of Karachi, Pakistan from December 2015 to November 2019. The mean follow-up period for each participant was about 22 months. Pairwise comparisons from Cox regression/hazard ratios were used to assess the predictors of adherence. Direct costs of AEDs were calculated and presented as the annual cost of drugs. Results A total of 11,490 patients were included in this study, 51.2 % were male and 48.8 % were female with a mean age of 45.2 ± 15.8 y. Levetiracetam was found as the most prescribing AED in all study participants (32.9 %). Of them, 49.1 % of patients continued their initial recommended treatment. However, 31.3 % of patients have discontinued the therapy, while, 19.6 % were switched to other AED. Adherence with initial treatment was more profound in male (57.4 %) patients, compared to female with a mean age of 44.2 years. Lamotrigine users (60.6 %) showed a higher tendency to retain on initially prescribed drugs. The total cost of epilepsy treatment in the entire study cohort was 153280.5 PKR ($941.9). By applying the Cox regression analysis, it can be observed that the patients with increasing age (OR, 2.04), migraine (OR, 2.21), psychiatric disorders (OR, 4.28), other comorbidities (OR, 1.52) and users of other than top five prescribing AEDs (2.35) were at higher risk of treatment discontinuation. However, levetiracetam (OR, 0.69), valproic acid (OR, 0.52), carbamazepine (OR, 0.81), lamotrigine (OR, 0.80) or lacosamide (OR, 0.65) users have more chances to continue their initial therapy. Conclusions Similar to western countries, the majority of patients with epilepsy exhibited low adherence with AEDs. Various associated factors for improving adherence were identified in this study.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yu Liu ◽  
Chunjie Liu ◽  
Dongmei Guo ◽  
Ning Wang ◽  
Ying Zhao ◽  
...  

Abstract Background The medical community has recognized overweight as an epidemic negatively affecting a large proportion of the pediatric population, but few studies have been performed to investigate the relationship between overweight and failure of conservative treatment for distal radius fractures (DRFs). This study was performed to investigate the effect of overweight on the outcome of conservative treatment for DRFs in children. Methods We performed a retrospective study of children with closed displaced distal metaphyseal radius fractures in our hospital from January 2015 to May 2020. Closed reduction was initially performed; if closed reduction failed, surgical treatment was performed. Patients were followed up regularly after treatment, and redisplacement was diagnosed on the basis of imaging findings. Potential risk factors for redisplacement were collected and analyzed. Results In total, 142 children were included in this study. The final reduction procedure failed in 21 patients, all of whom finally underwent surgical treatment. The incidences of failed final reduction and fair reduction were significantly higher in the overweight/obesity group than in the normal-weight group (P = 0.046 and P = 0.041, respectively). During follow-up, 32 (26.4%) patients developed redisplacement after closed reduction and cast immobilization. The three risk factors associated with the incidence of redisplacement were overweight/obesity [odds ratio (OR), 2.149; 95% confidence interval (CI), 1.320–3.498], an associated ulnar fracture (OR, 2.127; 95% CI, 1.169–3.870), and a three-point index of ≥ 0.40 (OR, 3.272; 95% CI, 1.975–5.421). Conclusions Overweight increases the risk of reduction failure and decreases the reduction effect. Overweight children were two times more likely to develop redisplacement than normal-weight children in the present study. Thus, overweight children may benefit from stricter clinical follow-up and perhaps a lower threshold for surgical intervention.


1973 ◽  
Vol 10 (4) ◽  
pp. 841-851
Author(s):  
Juan J. Gagliardino ◽  
María T. Pessacq ◽  
Oscar Marcote ◽  
Elma E. Gagliardino

2009 ◽  
Vol 12 (7) ◽  
pp. 973-978 ◽  
Author(s):  
Jiang Jingxiong ◽  
Urban Rosenqvist ◽  
Wang Huishan ◽  
Bert Koletzko ◽  
Lian Guangli ◽  
...  

AbstractBackgroundChildhood obesity has become a major public health problem in many countries. To explore the risk factors of overweight in infants and young children might be helpful in developing an early overweight intervention strategy.ObjectiveTo assess the prevalence of overweight and the relationship of parental characteristics and feeding practices to overweight in infants and young children in Beijing, China.DesignData on weight and length/height were collected on 4654 children aged 1–35 months in twelve communities in Beijing from a cross-sectional study. Overweight was defined as weight-for-length/height ≥2sd above the median of the WHO reference. Two hundred and fifteen families with overweight children and 215 families with normal-weight children were interviewed using a questionnaire to obtain feeding practices.ResultsThe overall prevalence of overweight was 4·7 %. Both parental overweight and low parental education were significantly higher among overweight than normal-weight children. The total energy intake was significantly higher in overweight than in normal-weight children at 12–35 months of age. Compared with normal-weight children, significantly fewer overweight children were breast-fed for at least 4 months. Overweight children were also more likely to have been introduced to infant formula and semi-solid foods during the first 4 months.ConclusionEarly prevention strategies should include feeding practices identified as putting children at risk of obesity. These include early cessation of breast-feeding and premature introduction of other foods.


2008 ◽  
Vol 26 (35) ◽  
pp. 5783-5788 ◽  
Author(s):  
Heather Hampel ◽  
Wendy L. Frankel ◽  
Edward Martin ◽  
Mark Arnold ◽  
Karamjit Khanduja ◽  
...  

Purpose Identifying individuals with Lynch syndrome (LS) is highly beneficial. However, it is unclear whether microsatellite instability (MSI) or immunohistochemistry (IHC) should be used as the screening test and whether screening should target all patients with colorectal cancer (CRC) or those in high-risk subgroups. Patients and Methods MSI testing and IHC for the four mismatch repair proteins was performed on 500 tumors from unselected patients with CRC. If either MSI or IHC was abnormal, complete mutation analysis for the mismatch repair genes was performed. Results Among the 500 patients, 18 patients (3.6%) had LS. All 18 patients detected with LS (100%) had MSI-high tumors; 17 (94%) of 18 patients with LS were correctly predicted by IHC. Of the 18 probands, only eight patients (44%) were diagnosed at age younger than 50 years, and only 13 patients (72%) met the revised Bethesda guidelines. When these results were added to data on 1,066 previously studied patients, the entire study cohort (N = 1,566) showed an overall prevalence of 44 of 1,566 patients (2.8%; 95% CI, 2.1% to 3.8%) for LS. For each proband, on average, three additional family members carried MMR mutations. Conclusion One of every 35 patients with CRC has LS, and each has at least three relatives with LS; all of whom can benefit from increased cancer surveillance. For screening, IHC is almost equally sensitive as MSI, but IHC is more readily available and helps to direct gene testing. Limiting tumor analysis to patients who fulfill Bethesda criteria would fail to identify 28% (or one in four) cases of LS.


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